ABCA7

Summary

ABCA7 (ATP binding cassette subfamily A member 7, HGNC:37) is a protein-coding gene on chromosome 19p13.3, encoding Phospholipid-transporting ATPase ABCA7 (Q8IZY2). Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP.

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system.

Source: NCBI Gene 10347 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Alzheimer disease 9 (Limited, GenCC)
• GWAS associations: 34
• Clinical variants (ClinVar): 589 total — 18 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 11
• MANE Select transcript: NM_019112

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37
Approved symbol	ABCA7
Name	ATP binding cassette subfamily A member 7
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	ABCX
Ensembl gene	ENSG00000064687
Ensembl biotype	protein_coding
OMIM	605414
Entrez	10347

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 8 retained_intron, 5 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000263094, ENST00000433129, ENST00000435683, ENST00000524383, ENST00000524850, ENST00000525073, ENST00000525238, ENST00000526885, ENST00000527496, ENST00000529442, ENST00000530092, ENST00000530703, ENST00000531467, ENST00000531478, ENST00000532194, ENST00000533574, ENST00000612569, ENST00000673773

RefSeq mRNA: 1 — MANE Select: NM_019112 NM_019112

CCDS: CCDS12055

Canonical transcript exons

ENST00000263094 — 47 exons

Exon	Start	End
ENSE00000518521	1042315	1042397
ENSE00002170325	1040107	1040196
ENSE00002746408	1046802	1047024
ENSE00002750458	1061782	1061888
ENSE00002759812	1052214	1052286
ENSE00002787628	1050921	1051052
ENSE00002799641	1059023	1059085
ENSE00002801897	1043334	1043473
ENSE00002821084	1048895	1049005
ENSE00002824326	1057314	1057429
ENSE00002824721	1042746	1042826
ENSE00002832115	1056066	1056243
ENSE00002835171	1051449	1051586
ENSE00002841028	1049266	1049437
ENSE00002842969	1063760	1063863
ENSE00002843652	1045002	1045231
ENSE00002855677	1051155	1051294
ENSE00002868584	1062172	1062313
ENSE00002871966	1043041	1043251
ENSE00002875693	1054006	1054110
ENSE00002893505	1047453	1047654
ENSE00002902899	1046230	1046406
ENSE00002906572	1053788	1053836
ENSE00002910981	1051942	1052126
ENSE00002923317	1044577	1044744
ENSE00002928774	1064161	1064253
ENSE00002931507	1054570	1054694
ENSE00002955823	1056330	1056499
ENSE00002957170	1043725	1043841
ENSE00002959890	1054193	1054341
ENSE00002963966	1053329	1053531
ENSE00002974933	1056907	1057084
ENSE00003458944	1047157	1047378
ENSE00003472207	1055907	1055939
ENSE00003490431	1063544	1063678
ENSE00003501268	1055097	1055351
ENSE00003527124	1041225	1041427
ENSE00003545083	1041510	1041603
ENSE00003552816	1041831	1041972
ENSE00003582998	1058146	1058269
ENSE00003601929	1058820	1058940
ENSE00003610621	1058618	1058747
ENSE00003636151	1054780	1054878
ENSE00003654780	1064931	1065171
ENSE00003677142	1057915	1058059
ENSE00003712394	1065270	1065572
ENSE00003790291	1042064	1042176

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 96.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.3234 / max 374.8705, expressed in 1638 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172845	13.7280	1602
172852	0.7015	240
172847	0.4484	151
172846	0.1995	80
172851	0.1339	70
172848	0.0875	23
172850	0.0246	12

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	96.75	gold quality
adenohypophysis	UBERON:0002196	95.84	gold quality
pituitary gland	UBERON:0000007	94.38	gold quality
blood	UBERON:0000178	92.24	gold quality
spleen	UBERON:0002106	91.97	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.68	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.31	gold quality
mucosa of transverse colon	UBERON:0004991	89.87	gold quality
cerebellar hemisphere	UBERON:0002245	89.69	gold quality
cerebellar cortex	UBERON:0002129	89.52	gold quality
minor salivary gland	UBERON:0001830	88.06	gold quality
monocyte	CL:0000576	87.50	gold quality
mononuclear cell	CL:0000842	87.16	gold quality
cerebellum	UBERON:0002037	87.16	gold quality
leukocyte	CL:0000738	87.15	gold quality
lymph node	UBERON:0000029	86.38	gold quality
lower esophagus mucosa	UBERON:0035834	86.32	gold quality
upper lobe of left lung	UBERON:0008952	86.21	gold quality
mouth mucosa	UBERON:0003729	85.92	gold quality
right lung	UBERON:0002167	85.57	gold quality
upper lobe of lung	UBERON:0008948	85.52	gold quality
saliva-secreting gland	UBERON:0001044	85.12	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.99	gold quality
bone marrow cell	CL:0002092	84.78	gold quality
right lobe of thyroid gland	UBERON:0001119	84.71	gold quality
esophagus mucosa	UBERON:0002469	84.63	gold quality
apex of heart	UBERON:0002098	84.58	gold quality
left lobe of thyroid gland	UBERON:0001120	84.57	gold quality
right frontal lobe	UBERON:0002810	84.30	gold quality
skin of abdomen	UBERON:0001416	83.81	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	84.69
E-MTAB-9388	yes	5.83
E-ANND-3	yes	5.14
E-MTAB-7249	no	16.52

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SREBF2

miRNA regulators (miRDB)

7 targeting ABCA7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-6849-3P	97.25	64.57	1371
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-1915-5P	95.25	65.78	571

Literature-anchored findings (GeneRIF, showing 40)

• ABCA7 has the ability to bind apolipoproteins and promote efflux of cellular phospholipids without cholesterol, and has a possible role of ABCA7 in cellular phospholipid metabolism in peripheral tissues (PMID:12917409)
• Overexpression of ABCA7 in HeLa cells resulted in increased expression of intracellular and cell surface ceramide and elevated intracellular phosphatidylserine levels. (PMID:12925201)
• ABCA7 compensates the function of ABCA1 for release of cell cholesterol in a certain condition(s). (PMID:14570867)
• Alternative splicing could be involved in the post-transcriptional regulation of the expression and function of human ABCA7 (PMID:14592415)
• the ABCA7-mediated reaction generated mostly small cholesterol-poor particles; ABCA7 produces this HDL subfraction only as a very minor component. (PMID:15930518)
• These studies reveal a major role of ABCA7 and not -A1 in the clearance of apoptotic cells and therefore suggest that ABCA7 is an authentic orthologue of CED-7. (PMID:16908670)
• [REVIEW]ABCA7 seems to be one of the key molecules linking sterol homeostasis and the host defense system (PMID:21173549)
• ABCA7 and the MS4A6A/MS4A4E gene cluster are new Alzheimer’s disease susceptibility loci. (PMID:21460840)
• The ABCA7 gene is regulated by sterol in a direction opposite to that of ABCA1. (PMID:23324282)
• Interactions between two cholesterol metabolizing genes, ABCA7 and APOE epsilon4, are associated with memory and Alzheimer’s disease. (PMID:23669301)
• The minor G allele frequency of the rs1788799 polymorphisms in NPC1 might be a protective factor while the rs3764650 polymorphisms of ABCA7 might not be related to sporadic Alzheimer’s disease in the Han Chinese population. (PMID:24064683)
• These studies provide the first direct evidence for ABCA1 and ABCA7 functioning as phospholipid transporters and suggest that this activity is an essential step in the loading of apoA-1 with phospholipids for HDL formation. (PMID:24097981)
• ABCA7 (rs3,764,650) was associated with sporadic Alzheimer disease in the Chinese population, with both ApoEepsilon4-carrier and aging being factors enhancing its risk. (PMID:24113560)
• the rs3764650T allele that decreases AD risk is associated with increased ABCA7 expression (PMID:24141082)
• In Alzheimer’s disease patients with cognitive impairments, an association was linked to SNPs of ABCA7. (PMID:24530172)
• Collectively, our analysis further supports previous findings that the ABCA7 rs3764650 polymorphism is associated with Alzheimer disease susceptibility. (PMID:24643655)
• Of those 394 variants, 34 showed strong evidence of regulatory function (RegulomeDB score <3), and only 3 of them were genome-wide significant SNPs (ZCWPW1/rs1476679, CLU/rs1532278 and ABCA7/rs3764650). (PMID:24743338)
• It is a susceptibility gene of Alzheimer’s disease in the Han-Chinese in Taiwan. (PMID:24908168)
• Brain DNA methylation in ABCA7 was associated with pathological Alzheimer disease. (PMID:25365775)
• The results are consistent with the view that assembly of HDL particles with extracellular apoA-I is primarily with the cellular phospholipid molecules being regulated in part by their physicochemical nature. (PMID:25665932)
• Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease in Icelanders. [meta-analysis] (PMID:25807283)
• Loss-of-function of ABCA7 could be a potential mechanism of Alzheimer’s disease as shown in a Belgian cohort. (PMID:26141617)
• ABCA7 has a role in Alzheimer amyloid processing (PMID:26260791)
• Studies indicate that ATP-binding cassette transporter A7 (ABCA7) single nucleotide polymorphisms (SNPs) that increase Alzheimer’s disease (AD) risk. (PMID:26517904)
• Study replicates the association of ABCA7 loss-of-function variants with Alzheimer’s disease risk, and highlights the necessity of performing gene-based, rather than single-variant analyses to replicate the association in this type of studies (PMID:26654793)
• Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy. (PMID:26923404)
• Results suggested that ABCA7 genotypes contribute to the AD risk through involvement in amyloid-beta deposition on in vivo imaging, but not in tau pathology, brain atrophy, or decreased glucose metabolism (PMID:27003212)
• Results confirm that ABCA7 loss of function variants are enriched in patients with Alzheimer disease and extend this finding to predicted damaging missense variants (PMID:27037229)
• A detailed clinicopathologic description of patients carrying an ABCA7 loss of function mutation: a classical Alzheimer disease phenotype, though with a striking wide onset age range, suggesting the influence of unknown modifying factors (PMID:27037232)
• It is a potential protective factor for Alzheimer’s disease.( (PMID:27289440)
• This study demonstrated that Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-beta40 and Amyloid-beta42 Peptides and ABCA7 Transcription in Cell Culture Models. (PMID:27314524)
• The major difference in the pattern of lipid peaks between ABCA7 and ABCA1 was the high lysoPC/PC ratio of ABCA7. (PMID:28373057)
• Study uses targeted sequencing of ABCA7 to identify splicing, stop-gain and intronic risk variants for Alzheimer disease. Study shows that multiple variants in ABCA7 contribute to late-onset Alzheimer’s disease risk. (PMID:28400126)
• ABCA7 PTC mutations play a substantial role in early-onset Alzheimer disease, warranting genetic screening of ABCA7 in genetically unexplained patients. (PMID:28447221)
• rs3764650 ABCA7 is not associated with late-onset Alzheimer’s disease. (PMID:28477215)
• The primary findings of this report are that abnormal ABCA7 exon 41 splicing is found in the brain of an individual carrying the minor C allele of rs200538373 and that rs200538373 is a functional SNP (PMID:28655137)
• Its genetic variation contributes to pathogenesis of Alzheimer disease. (PMID:28789839)
• Study investigated the association between ABCA7 rs3764650 SNP and blood lipid levels in Southern Chinese Han sporadic Alzheimer’s disease population, and found GG genotype was a risk factor of sporadic Alzheimer’s disease as well as lipid homeostasis. (PMID:29111006)
• this meta-analysis suggested that ABCA7 rs3764650 polymorphism is significantly associated with Alzheimer’s disease risk (PMID:29441941)
• Study observed strong association between VNTR length and a genome-wide associated signal for Alzheimer’s disease (AD) in the ABCA7 locus. Expanded VNTR alleles were highly enriched in AD patients. VNTR length inversely correlated with amyloid beta1-42 in cerebrospinal fluid and ABCA7 expression. Also identified three novel ABCA7 alternative splicing events. (PMID:29589097)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	abca7	ENSDARG00000074221
mus_musculus	Abca7	ENSMUSG00000035722
rattus_norvegicus	Abca7	ENSRNOG00000012939
drosophila_melanogaster	Eato	FBGN0028539
drosophila_melanogaster	CG1494	FBGN0031169
drosophila_melanogaster	Abca3	FBGN0031170
drosophila_melanogaster	CG1801	FBGN0031171
drosophila_melanogaster	CG8908	FBGN0034493
drosophila_melanogaster	CG6052	FBGN0036747
drosophila_melanogaster	CG31213	FBGN0051213
drosophila_melanogaster	ldd	FBGN0083956
caenorhabditis_elegans		WBGENE00000019
caenorhabditis_elegans	abt-2	WBGENE00000020
caenorhabditis_elegans		WBGENE00000022
caenorhabditis_elegans	abt-5	WBGENE00000023

Paralogs (11): ABCA2 (ENSG00000107331), ABCA8 (ENSG00000141338), ABCA12 (ENSG00000144452), ABCA9 (ENSG00000154258), ABCA6 (ENSG00000154262), ABCA10 (ENSG00000154263), ABCA5 (ENSG00000154265), ABCA1 (ENSG00000165029), ABCA3 (ENSG00000167972), ABCA13 (ENSG00000179869), ABCA4 (ENSG00000198691)

Protein

Protein identifiers

Phospholipid-transporting ATPase ABCA7 — Q8IZY2 (reviewed: Q8IZY2)

Alternative names: ABCA-SSN, ATP-binding cassette sub-family A member 7, Autoantigen SS-N, Macrophage ABC transporter

All UniProt accessions (8): Q8IZY2, A0A087WX86, A0A087WZX6, A0A6E1ZGS3, E9PKG5, E9PL63, H0YCN5, H0YF58

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylserine over phosphatidylcholine. Plays a role in lipid homeostasis and macrophage-mediated phagocytosis. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocyte differentiation. Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation. Plays a role in phagocytosis of apoptotic cells by macrophages. Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7. Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages. Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing. Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients.

Subcellular location. Cell membrane. Golgi apparatus membrane. Early endosome membrane. Cytoplasm. Cell projection. Ruffle membrane. Phagocytic cup Cytoplasm. Endoplasmic reticulum.

Tissue specificity. Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Expressed in the hippocampus and the cerebellum. Isoform 2: Abundant in lymph node, spleen, thymus and trachea. Isoform 1: Strongly expressed in brain and bone marrow.

Post-translational modifications. N-glycosylated.

Disease relevance. Alzheimer disease 9 (AD9) [MIM:608907] A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Activity regulation. ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylserine, phosphatidylcholine and sphingomyelin, but phosphatidylserine is more effective.

Induction. Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation.

Miscellaneous. Inactive for apoA-I-mediated lipid release.

Similarity. Belongs to the ABC transporter superfamily. ABCA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IZY2-1	1, Type 1	yes
Q8IZY2-2	2, Type 2

RefSeq proteins (1): NP_061985* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR013525	ABC2_TM	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR026082	ABCA	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR056264	R2_ABCA1-4-like	Domain

Pfam: PF00005, PF12698, PF23321

Catalyzed reactions (Rhea), 2 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + phosphate + H(+) (RHEA:38567)
• a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + phosphate + H(+) (RHEA:38583)

UniProt features (216 total): helix 87, strand 50, turn 35, transmembrane region 15, sequence variant 11, region of interest 3, topological domain 2, domain 2, binding site 2, disulfide bond 2, splice variant 2, sequence conflict 2, chain 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
8Y1P	ELECTRON MICROSCOPY	3.45
8EDW	ELECTRON MICROSCOPY	3.6
8EOP	ELECTRON MICROSCOPY	3.7
8EEB	ELECTRON MICROSCOPY	3.9
8Y1O	ELECTRON MICROSCOPY	3.92
8EE6	ELECTRON MICROSCOPY	4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZY2-F1	75.77	0.11

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 841–848; 1827–1834

Disulfide bonds (2): 75–225, 1345–1359

Glycosylation sites (1): 312

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport

MSigDB gene sets: 343 (showing top): GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MEMORY, GOBP_COGNITION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_BEHAVIOR, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_ASSOCIATIVE_LEARNING, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_SURFACE, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS

GO Biological Process (28): phagocytosis (GO:0006909), memory (GO:0007613), visual learning (GO:0008542), positive regulation of cholesterol efflux (GO:0010875), regulation of lipid metabolic process (GO:0019216), cholesterol efflux (GO:0033344), phospholipid efflux (GO:0033700), amyloid-beta formation (GO:0034205), high-density lipoprotein particle assembly (GO:0034380), protein localization to nucleus (GO:0034504), apolipoprotein A-I-mediated signaling pathway (GO:0038027), negative regulation of amyloid precursor protein biosynthetic process (GO:0042985), negative regulation of MAPK cascade (GO:0043409), plasma membrane raft organization (GO:0044857), phospholipid translocation (GO:0045332), negative regulation of endocytosis (GO:0045806), positive regulation of phagocytosis (GO:0050766), positive regulation of ERK1 and ERK2 cascade (GO:0070374), amyloid-beta clearance by cellular catabolic process (GO:0150094), positive regulation of amyloid-beta clearance (GO:1900223), positive regulation of engulfment of apoptotic cell (GO:1901076), negative regulation of amyloid-beta formation (GO:1902430), regulation of amyloid precursor protein catabolic process (GO:1902991), positive regulation of phospholipid efflux (GO:1902995), negative regulation of PERK-mediated unfolded protein response (GO:1903898), positive regulation of protein localization to cell surface (GO:2000010), lipid transport (GO:0006869), transmembrane transport (GO:0055085)

GO Molecular Function (12): ATP binding (GO:0005524), obsolete phospholipid transporter activity (GO:0005548), ATP hydrolysis activity (GO:0016887), apolipoprotein A-I receptor activity (GO:0034188), ATPase-coupled transmembrane transporter activity (GO:0042626), phosphatidylcholine floppase activity (GO:0090554), phosphatidylserine floppase activity (GO:0090556), floppase activity (GO:0140328), ABC-type transporter activity (GO:0140359), nucleotide binding (GO:0000166), lipid carrier activity (GO:0005319), ATPase-coupled intramembrane lipid carrier activity (GO:0140326)

GO Cellular Component (14): Golgi membrane (GO:0000139), phagocytic cup (GO:0001891), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), cell junction (GO:0030054), early endosome membrane (GO:0031901), ruffle membrane (GO:0032587), glial cell projection (GO:0097386), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ABC-family protein mediated transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
ATP-dependent activity	3
endomembrane system	3
endocytosis	2
phospholipid transport	2
amyloid-beta metabolic process	2
amyloid-beta clearance	2
floppase activity	2
cytoplasm	2
intracellular membrane-bounded organelle	2
learning or memory	1
visual behavior	1
associative learning	1
regulation of cholesterol efflux	1
positive regulation of cholesterol transport	1
cholesterol efflux	1
lipid metabolic process	1
regulation of primary metabolic process	1
cholesterol transport	1
amyloid precursor protein catabolic process	1
plasma lipoprotein particle assembly	1
protein localization to organelle	1
cell surface receptor signaling pathway	1
negative regulation of glycoprotein biosynthetic process	1
amyloid precursor protein biosynthetic process	1
regulation of amyloid precursor protein biosynthetic process	1
MAPK cascade	1
regulation of MAPK cascade	1
negative regulation of intracellular signal transduction	1
plasma membrane organization	1
membrane raft organization	1
lipid translocation	1
regulation of endocytosis	1
negative regulation of transport	1
negative regulation of cellular component organization	1
phagocytosis	1
positive regulation of endocytosis	1
regulation of phagocytosis	1
positive regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1

Protein interactions and networks

STRING

1356 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCA7	APOA1	P02647	925
ABCA7	CD2AP	Q9Y5K6	883
ABCA7	PICALM	Q13492	873
ABCA7	ARHGAP45	Q92619	866
ABCA7	SORL1	Q92673	834
ABCA7	MS4A4E	Q96PG1	823
ABCA7	BIN1	O00499	820
ABCA7	MS4A6A	Q9H2W1	811
ABCA7	PSEN2	P49810	803
ABCA7	CLU	P10909	800
ABCA7	EPHA1	P21709	777
ABCA7	APOE	P02649	773
ABCA7	TREM2	Q9NZC2	772
ABCA7	CD33	P20138	766
ABCA7	ZCWPW1	Q9H0M4	762

IntAct

139 interactions, top by confidence:

A	B	Type	Score
GABRA3	HLA-C	psi-mi:“MI:0914”(association)	0.530
ABCA7	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
MAST1	ABCA7	psi-mi:“MI:0407”(direct interaction)	0.440
SNTB1	ABCA7	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PARD3	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
SCRIB	ABCA7	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD4	ABCA7	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.440
TIAM2	ABCA7	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	ABCA7	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA7	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (25): ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Two-hybrid), ABCA7 (Two-hybrid), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS), ABCA7 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A7N9VSG0, A7YSY2, D3KCC4, D3ZU57, D4A2B7, O08644, O15197, O19179, O43542, O75064, O95382, P0C0K6, P0C0K7, P51840, P52785, P52824, P54777, Q02846, Q05932, Q13470, Q13608, Q1HG60, Q3ZBE0, Q4KM32, Q5JZY3, Q643R3, Q6MG64, Q6NVG1, Q6ZPS2, Q76MJ5, Q7TNJ2, Q80SX8, Q8BYG9, Q8IZY2, Q8NFF5, Q8R5G7, Q8TDZ2, Q8WWN8, Q91V24

Diamond homologs: A0A0G2K1Q8, C0SPB4, E9PU17, E9PX95, E9Q876, F1MWM0, O35600, O52618, O95477, P08720, P0A9U1, P0A9U2, P0DXG8, P0DXU5, P0DXU7, P19844, P22040, P23703, P26050, P30750, P32010, P36879, P37624, P41233, P41234, P44785, P50332, P54592, P55476, P63355, P63356, P70970, P72335, P78363, P94374, P94440, Q05067, Q0I5E9, Q0TLD2, Q13ZJ1

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
ABCA7	up-regulates	Phagocytosis
ABCA7	“down-regulates quantity”	APP	relocalization
ABCA7	“up-regulates activity”	APOA1	binding
ABCA7	up-regulates	HDL_assembly

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	43.9×	5e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	41.8×	5e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	41.8×	5e-06
Long-term potentiation	5	36.6×	7e-06
Assembly and cell surface presentation of NMDA receptors	9	35.1×	3e-10
Neurexins and neuroligins	10	30.3×	2e-10
Protein-protein interactions at synapses	6	24.5×	5e-06
Neuronal System	7	4.8×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	59.9×	3e-13
protein localization to synapse	6	47.4×	4e-07
receptor clustering	7	45.0×	4e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	6	30.7×	4e-06
cell-cell adhesion	11	11.5×	4e-07
protein-containing complex assembly	9	10.6×	1e-05
chemical synaptic transmission	8	6.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

589 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	20
Uncertain significance	373
Likely benign	79
Benign	34

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	Pathogenic
147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	Pathogenic
152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	Pathogenic
1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	Pathogenic
253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	Pathogenic
2629401	NM_019112.4(ABCA7):c.3247C>T (p.Gln1083Ter)	Pathogenic
3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	Pathogenic
3391863	GRCh37/hg19 19p13.3(chr19:260912-2934171)x3	Pathogenic
564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	Pathogenic
57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	Pathogenic
584311	NC_000019.9:g.(?852323)(1222011_?)del	Pathogenic
59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	Pathogenic
59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	Pathogenic
60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	Pathogenic
686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	Pathogenic
816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	Pathogenic
832758	NC_000019.9:g.(?852326)(1226646_?)del	Pathogenic
833462	NC_000019.9:g.(?852319)(1226656_?)del	Pathogenic
145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	Likely pathogenic
1678165	NM_019112.4(ABCA7):c.4007G>A (p.Trp1336Ter)	Likely pathogenic
1678166	NM_019112.4(ABCA7):c.2326G>T (p.Gly776Ter)	Likely pathogenic
1678172	NM_019112.4(ABCA7):c.1622+2_1622+3del	Likely pathogenic
1678175	NM_019112.4(ABCA7):c.1009dup (p.Thr337fs)	Likely pathogenic
1678176	NM_019112.4(ABCA7):c.1048-2A>C	Likely pathogenic
1678179	NM_019112.4(ABCA7):c.1337_1338del (p.Ser446fs)	Likely pathogenic
1678180	NM_019112.4(ABCA7):c.273del (p.Arg93fs)	Likely pathogenic
2628781	NM_019112.4(ABCA7):c.4417-1G>C	Likely pathogenic
2632249	NM_019112.4(ABCA7):c.3397_3403dup (p.Ser1135fs)	Likely pathogenic
2635089	NM_019112.4(ABCA7):c.2691dup (p.Val898fs)	Likely pathogenic
3029083	NM_019112.4(ABCA7):c.5850del (p.Asp1950fs)	Likely pathogenic

SpliceAI

6129 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1042823:GGAG:G	donor_gain	1.0000
19:1042824:GAGG:G	donor_gain	1.0000
19:1042824:GAGGT:G	donor_loss	1.0000
19:1042825:AGGTA:A	donor_loss	1.0000
19:1042827:GTACG:G	donor_loss	1.0000
19:1042828:T:G	donor_loss	1.0000
19:1043252:G:GG	donor_gain	1.0000
19:1043458:G:GT	donor_gain	1.0000
19:1043719:CCACA:C	acceptor_loss	1.0000
19:1043720:CACAG:C	acceptor_loss	1.0000
19:1043721:ACAGG:A	acceptor_loss	1.0000
19:1043722:CAGG:C	acceptor_loss	1.0000
19:1043724:G:GT	acceptor_loss	1.0000
19:1044575:AGC:A	acceptor_gain	1.0000
19:1044575:AGCG:A	acceptor_gain	1.0000
19:1044576:GC:G	acceptor_gain	1.0000
19:1044576:GCG:G	acceptor_gain	1.0000
19:1044576:GCGG:G	acceptor_gain	1.0000
19:1044576:GCGGC:G	acceptor_gain	1.0000
19:1044691:G:GT	donor_gain	1.0000
19:1044743:AGGTG:A	donor_loss	1.0000
19:1044744:GGTG:G	donor_loss	1.0000
19:1044745:G:T	donor_loss	1.0000
19:1044746:T:A	donor_loss	1.0000
19:1044999:CA:C	acceptor_loss	1.0000
19:1045000:A:AG	acceptor_gain	1.0000
19:1045001:G:GA	acceptor_gain	1.0000
19:1045001:GT:G	acceptor_gain	1.0000
19:1045001:GTGC:G	acceptor_gain	1.0000
19:1045001:GTGCC:G	acceptor_gain	1.0000

AlphaMissense

13736 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1041534:T:A	W31R	0.995
19:1041534:T:C	W31R	0.995
19:1058021:A:C	S1663R	0.995
19:1058023:C:A	S1663R	0.995
19:1058023:C:G	S1663R	0.995
19:1056336:T:C	F1475L	0.993
19:1056338:C:A	F1475L	0.993
19:1056338:C:G	F1475L	0.993
19:1057916:T:A	W1628R	0.993
19:1057916:T:C	W1628R	0.993
19:1046995:A:C	S606R	0.991
19:1046997:C:A	S606R	0.991
19:1046997:C:G	S606R	0.991
19:1058200:T:C	F1694L	0.991
19:1058202:C:A	F1694L	0.991
19:1058202:C:G	F1694L	0.991
19:1046291:T:C	F503L	0.988
19:1046293:C:A	F503L	0.988
19:1046293:C:G	F503L	0.988
19:1051515:A:T	D964V	0.988
19:1046803:T:C	F542L	0.987
19:1046805:C:A	F542L	0.987
19:1046805:C:G	F542L	0.987
19:1047178:A:C	S623R	0.987
19:1047180:C:A	S623R	0.987
19:1047180:C:G	S623R	0.987
19:1058219:T:C	L1700P	0.987
19:1058213:G:C	R1698P	0.986
19:1041538:C:G	P32R	0.985
19:1046851:T:A	W558R	0.985

dbSNP variants (sampled 300 via entrez): RS1000043948 (19:1065936 C>A,G,T), RS1000407997 (19:1039274 C>G,T), RS1000451840 (19:1052806 G>A), RS1000474633 (19:1049140 C>T), RS1000588610 (19:1044115 T>A), RS1000715141 (19:1038378 A>G), RS1000783578 (19:1063396 C>T), RS1000815369 (19:1062666 G>A,C), RS1000886683 (19:1039380 C>T), RS1001167623 (19:1050705 G>A,T), RS1001596874 (19:1063477 C>A,T), RS1001615435 (19:1040043 G>T), RS1001672980 (19:1055294 C>G), RS1001868525 (19:1064824 G>A,T), RS1002000025 (19:1053084 G>A)

Disease associations

OMIM: gene MIM:605414 | disease phenotypes: MIM:608907, MIM:175200, MIM:162800, MIM:202700, MIM:300352

GenCC curated gene-disease

Disease	Classification	Inheritance
Alzheimer disease 9	Limited	Unknown

Mondo (7): Alzheimer disease 9 (MONDO:0012153), Peutz-Jeghers syndrome (MONDO:0008280), amyotrophic lateral sclerosis (MONDO:0004976), cyclic hematopoiesis (MONDO:0008090), neutropenia, severe congenital, 1, autosomal dominant (MONDO:0042490), neuromuscular disease (MONDO:0019056), cerebral creatine deficiency syndrome (MONDO:0000456)

Orphanet (5): Peutz-Jeghers syndrome (Orphanet:2869), Amyotrophic lateral sclerosis (Orphanet:803), Cyclic neutropenia (Orphanet:2686), Neuromuscular disease (Orphanet:68381), Creatine deficiency syndrome (Orphanet:79172)

HPO phenotypes

11 total (12 of 11 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000716	Depression
HP:0000734	Disinhibition
HP:0002071	Abnormality of extrapyramidal motor function
HP:0002120	Cerebral cortical atrophy
HP:0002185	Neurofibrillary tangles
HP:0002354	Memory impairment
HP:0002511	Alzheimer disease
HP:0003584	Late onset
HP:0100256	Senile plaques
HP:0410170	Hippocampal atrophy
HP:0007354	Amyotrophic lateral sclerosis

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST001025_1	Alzheimer’s disease	5.000000e-17
GCST001026_6	Alzheimer’s disease (late onset)	6.000000e-07
GCST001963_1	Alzheimer’s disease (late onset)	2.000000e-09
GCST002245_12	Alzheimer’s disease (late onset)	1.000000e-15
GCST004600_103	Eosinophil percentage of white cells	4.000000e-09
GCST004602_256	Mean corpuscular volume	1.000000e-10
GCST004605_25	Mean corpuscular hemoglobin concentration	2.000000e-09
GCST004613_73	Sum neutrophil eosinophil counts	4.000000e-11
GCST004620_37	Sum basophil neutrophil counts	2.000000e-12
GCST004626_154	Myeloid white cell count	2.000000e-11
GCST004629_40	Neutrophil count	1.000000e-12
GCST004632_12	Lymphocyte percentage of white cells	6.000000e-11
GCST004633_6	Neutrophil percentage of white cells	9.000000e-12
GCST005992_36	Mean corpuscular hemoglobin concentration	2.000000e-11
GCST007319_26	Alzheimer’s disease (late onset)	9.000000e-09
GCST007320_106	Alzheimer’s disease or family history of Alzheimer’s disease	6.000000e-07
GCST007320_65	Alzheimer’s disease or family history of Alzheimer’s disease	8.000000e-11
GCST007320_83	Alzheimer’s disease or family history of Alzheimer’s disease	4.000000e-10
GCST007321_13	Family history of Alzheimer’s disease	3.000000e-08
GCST009021_16	Alzheimer’s disease	3.000000e-09
GCST009698_34	Metabolite levels	8.000000e-08
GCST009698_52	Metabolite levels	1.000000e-09
GCST009698_53	Metabolite levels	3.000000e-30
GCST011696_13	Alzheimer’s disease	4.000000e-07
GCST012020_51	Serum metabolite levels	8.000000e-11
GCST012020_70	Serum metabolite levels	6.000000e-38
GCST90002391_101	Mean corpuscular hemoglobin concentration	9.000000e-18
GCST90002392_47	Mean corpuscular volume	2.000000e-15
GCST90002396_4	Mean reticulocyte volume	8.000000e-14
GCST90002397_394	Mean spheric corpuscular volume	1.000000e-60

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0005090	basophil count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0009268	family history of Alzheimer’s disease
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count
EFO:0009188	Red cell distribution width

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D000690	Amyotrophic Lateral Sclerosis	C10.228.854.139; C10.574.562.250; C10.574.950.050; C10.668.467.250; C18.452.845.800.050
D009468	Neuromuscular Diseases	C10.668
D010580	Peutz-Jeghers Syndrome	C04.700.633; C06.405.469.578.750; C16.320.700.667; C17.800.621.430.530.550.625
C563834	Alzheimer Disease 9 (supp.)
C536227	Cyclic neutropenia (supp.)
C565969	Neutropenia, Severe Congenital, Autosomal Dominant 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCA subfamily

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
Air Pollutants	increases abundance, increases expression, decreases expression, affects expression	4
Tretinoin	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
trichostatin A	affects expression	1
sulforaphane	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
maleic acid	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Docetaxel	decreases expression, decreases response to substance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Ozone	affects expression, increases abundance	1
Quercetin	decreases expression	1
Selenium	increases expression	1
Smoke	increases expression	1
Testosterone	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Cellosaurus cell lines

9 cell lines: 7 induced pluripotent stem cell, 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C6TN	CNNDi001-A-1	Induced pluripotent stem cell	Male
CVCL_D0NW	UMi043-A	Induced pluripotent stem cell	Female
CVCL_E4NI	KOLF2.1J ABCA7 24.2kbdel DEL/DEL	Induced pluripotent stem cell	Male
CVCL_E4NK	KOLF2.1J ABCA7 E1679X SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E4NL	KOLF2.1J ABCA7 E1679X SNV/WT	Induced pluripotent stem cell	Male
CVCL_E4NN	KOLF2.1J ABCA7 W1214X SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E4NP	KOLF2.1J ABCA7 W1214X SNV/WT	Induced pluripotent stem cell	Male
CVCL_SA93	HAP1 ABCA7 (-) 1	Cancer cell line	Male
CVCL_SA94	HAP1 ABCA7 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03781050	PHASE4	UNKNOWN	Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome
NCT06001476	PHASE4	UNKNOWN	Cold Snare Polypectomy for Small Bowel Polyps in Patients With Peutz-Jeghers Syndrome
NCT00542412	PHASE4	COMPLETED	CARE Canadian ALS Riluzole Evaluation
NCT00560287	PHASE4	UNKNOWN	Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis
NCT00613899	PHASE4	COMPLETED	Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS)
NCT04997954	PHASE4	UNKNOWN	EMERALD TRIAL Open Label Extension Study
NCT06849115	PHASE4	COMPLETED	Effects of L-Carnitine in Amyotrophic Lateral Sclerosis Patients With CHCHD10 Mutations
NCT07223723	PHASE4	RECRUITING	A Study to Learn More About the Long-Term Safety of Tofersen (Qalsody) in Chinese Participants With SOD-1 Amyotrophic Lateral Sclerosis (ALS)
NCT02000089	PHASE3	RECRUITING	The Cancer of the Pancreas Screening-5 CAPS5)Study
NCT00021697	PHASE3	COMPLETED	Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS
NCT00035815	PHASE3	COMPLETED	Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial
NCT00047723	PHASE3	COMPLETED	Minocycline to Treat Amyotrophic Lateral Sclerosis
NCT00069186	PHASE3	UNKNOWN	Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis
NCT00136110	PHASE3	COMPLETED	Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis
NCT00330681	PHASE3	COMPLETED	Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS)
NCT00349622	PHASE3	COMPLETED	Clinical Trial Ceftriaxone in Subjects With ALS
NCT00372879	PHASE3	COMPLETED	Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS
NCT00415519	PHASE3	COMPLETED	Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III
NCT00424463	PHASE3	COMPLETED	Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00868166	PHASE3	COMPLETED	Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From ALS
NCT00965497	PHASE3	COMPLETED	Escitalopram (Lexapro) for Depression MS or ALS
NCT01016522	PHASE3	TERMINATED	Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS)
NCT01160263	PHASE3	COMPLETED	Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls
NCT01281189	PHASE3	COMPLETED	Phase 3 Study of Dexpramipexole in ALS
NCT01492686	PHASE3	COMPLETED	Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis
NCT01583088	PHASE3	TERMINATED	Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation
NCT01622088	PHASE3	TERMINATED	Phase 3 Extension Study of Dexpramipexole in ALS
NCT02496767	PHASE3	COMPLETED	Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year
NCT02623699	PHASE3	COMPLETED	An Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BIIB067 (Tofersen) in Adults With Inherited Amyotrophic Lateral Sclerosis (ALS)
NCT02936635	PHASE3	COMPLETED	A Study for Patients Who Completed VITALITY-ALS (CY 4031)
NCT03127267	PHASE3	RECRUITING	Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients
NCT03280056	PHASE3	COMPLETED	Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients
NCT03491462	PHASE3	COMPLETED	Arimoclomol in Amyotropic Lateral Sclerosis
NCT03505021	PHASE3	COMPLETED	Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS
NCT03548311	PHASE3	COMPLETED	Clinical Trial of Ultra-high Dose Methylcobalamin for ALS
NCT03690791	PHASE3	UNKNOWN	Efficacy of Cannabinoids in Amyotrophic Lateral Sclerosis or Motor Neurone Disease
NCT03800524	PHASE3	UNKNOWN	Safety and Efficacy of TUDCA as add-on Treatment in Patients Affected by ALS
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