ABCD1

Summary

ABCD1 (ATP binding cassette subfamily D member 1, HGNC:61) is a protein-coding gene on chromosome Xq28, encoding ATP-binding cassette sub-family D member 1 (P33897). ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen. It is haploinsufficient (ClinGen: sufficient evidence).

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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.

Source: NCBI Gene 215 — RefSeq curated summary.

At a glance

• Gene–disease (curated): adrenoleukodystrophy (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 2,279 total — 352 pathogenic, 192 likely-pathogenic
• Phenotypes (HPO): 148
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000033

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:61
Approved symbol	ABCD1
Name	ATP binding cassette subfamily D member 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	AMN, ALDP, adrenoleukodystrophy
Ensembl gene	ENSG00000101986
Ensembl biotype	protein_coding
OMIM	300371
Entrez	215

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000218104, ENST00000370129, ENST00000443684, ENST00000862306, ENST00000862307, ENST00000935199, ENST00000968902

RefSeq mRNA: 1 — MANE Select: NM_000033 NM_000033

CCDS: CCDS14728

Canonical transcript exons

ENST00000218104 — 10 exons

Exon	Start	End
ENSE00000677936	153729232	153729412
ENSE00000677937	153736112	153736254
ENSE00000677938	153736345	153736513
ENSE00000677940	153737157	153737251
ENSE00000677942	153740092	153740237
ENSE00000868271	153724856	153726166
ENSE00001050308	153743489	153744755
ENSE00001599709	153740574	153740719
ENSE00001691062	153743221	153743346
ENSE00001746534	153742987	153743071

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 92.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9102 / max 237.6452, expressed in 1748 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198095	12.5031	1748
198096	0.3476	117
198097	0.0596	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	92.72	gold quality
left adrenal gland cortex	UBERON:0035825	89.54	gold quality
left adrenal gland	UBERON:0001234	89.51	gold quality
right adrenal gland	UBERON:0001233	89.36	gold quality
olfactory bulb	UBERON:0002264	89.29	gold quality
type B pancreatic cell	CL:0000169	88.96	gold quality
right adrenal gland cortex	UBERON:0035827	88.84	gold quality
adrenal gland	UBERON:0002369	88.14	gold quality
adrenal cortex	UBERON:0001235	87.75	gold quality
adrenal tissue	UBERON:0018303	87.32	gold quality
monocyte	CL:0000576	86.90	gold quality
mononuclear cell	CL:0000842	86.56	gold quality
apex of heart	UBERON:0002098	86.54	gold quality
leukocyte	CL:0000738	86.22	gold quality
gastrocnemius	UBERON:0001388	85.80	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.52	gold quality
muscle of leg	UBERON:0001383	84.89	gold quality
stromal cell of endometrium	CL:0002255	84.78	gold quality
body of uterus	UBERON:0009853	84.43	gold quality
granulocyte	CL:0000094	84.03	gold quality
right testis	UBERON:0004534	83.83	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.22	gold quality
descending thoracic aorta	UBERON:0002345	83.12	gold quality
right coronary artery	UBERON:0001625	82.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.81	gold quality
thoracic aorta	UBERON:0001515	82.64	gold quality
left testis	UBERON:0004533	82.64	gold quality
ascending aorta	UBERON:0001496	82.56	gold quality
muscle organ	UBERON:0001630	82.35	gold quality
small intestine	UBERON:0002108	82.20	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting ABCD1, 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-4283	100.00	66.42	2097
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1275	99.47	67.90	2749

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• ALDP and ALDRP interact via their carboxy termini. ALDP mutations P484R and R591Q abolish this interaction. This interaction was demonstrated using human ALDP and murine ALDRP. (PMID:10551832)
• ALDP homodimerizes via the C-terminal cytosolic domain [361-745]. Residues Pro-484 and Arg-591 are important for the interaction. (PMID:10551832)
• ALDP interacts with PMP70. This interaction occurs via the C-terminus of ALDP [361-745] and the C-terminus of PMP70 [338-659]. ALDP mutations P484R and R591Q abolish the interaction. (PMID:10551832)
• Fifteen new mutations are described in Adrenoleukodystrophy patients (PMID:10737980)
• mutational analysis in patients with X-linked adrenoleukodystrophy (PMID:11438993)
• Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PMID:11992258)
• Eight novel mutations are described. (PMID:12175782)
• ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation (PMID:12509471)
• Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function. (PMID:12530690)
• The splice mutation in 5’ end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy. (PMID:12579499)
• Six different missense mutations in ALD were identified in seven Japanese families. (PMID:12624723)
• For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China. (PMID:14556192)
• There were no hot spot mutations in ABCD1 gene in China, mutations in gene were found over 70% of patients with ALD and the ABCD1 gene mutations identified revealed no obvious correlation between the type of mutation and phenotype. (PMID:14767898)
• ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway may help to prevent early atherosclerosis in Tangier disease. (PMID:15001567)
• Accumulation of very long-chain fatty acids does not affect mitochondrial function in ABCD1 protein deficiency. (PMID:15772093)
• analysis of the PEX19-binding site of human adrenoleukodystrophy protein (PMID:15781447)
• Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. We report an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future. (PMID:16018167)
• over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons (PMID:16087056)
• Data show that fetus 1 had R617G mutation on his ABCD1 gene and he was an adrenoleukodystrophy hemizygote. Fetus 2 had no P534R mutation on his ABCD1 gene and he was a normal hemizygote. (PMID:16331554)
• ABCD1 gene mutations were found in 4 cases of X-linked adrenoleukodystrophy with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes. (PMID:17285533)
• mutant ALDPs, which have a mutation in COOH-terminal half of ALDP, including S606L, R617H, & H667D, were degraded by proteasomes after dimerization. region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome. (PMID:17542813)
• This study examined a patient with Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. (PMID:17662307)
• ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of the brain. (PMID:17761426)
• ALDP deficiency enhances metabolic distress in oligodendrocytes that are compromised a priori by destabilised myelin. The age at which this occurs precedes the onset of axonal degeneration in Abcd1-deficient mice. (PMID:17828604)
• ABCD1 mutation in the ethiopathogenesis of X-linked adrenoleukodystrophy. Its defect causes accumulation of the very long chain fatty acids in the tissues of the central and peripheral nervous system, adrenal glands and in the body fluids. (PMID:18306728)
• A family with combined point mutations of the hemophilia A (F8)and X-linked adrenoleukodystrophy (ABCD1) genes. (PMID:18481121)
• This study concluded that de novo mutations occurred in this gene resulting in the disease. (PMID:18973459)
• study reports 3 novel ABCD1 gene variants (c.67_83del17, c.395G>A, c.1938_1939dupGG) in 3 unrelated Indian families with X-linked adrenoleukodystrophy (PMID:19406751)
• ABCD1 downregulation may be involved in human renal tumorigenesis. (PMID:19787628)
• A family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. (PMID:20042197)
• Three female patients heterozygous for ABCD1 gene mutation were first reported in China, and a novel mutation, p.H283R, was identified in this X-linked adrenoleukodystrophy family. (PMID:20376793)
• HsABCD1 and HsABCD2 have distinct substrate specificities (PMID:21145416)
• Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy is reported. (PMID:21273699)
• Amongst 489 X-linked adrenoleukodystrophy families, 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line. (PMID:21700483)
• standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype-phenotype correlation was also attempted (PMID:21889498)
• Single germ line mutation was identified in each index case in ABCD1 gene. Results detected 4 novel mutations (2 missense and 2 deletion/insertion) and 3 novel SNPS. Data observed a variable protein expression in different patients. (PMID:21966424)
• These results indicate that preferential X chromosome inactivation leads to the favored expression of the mutant ABCD1 allele. (PMID:22280810)
• Array comparative genomic hybridization analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in exon 4 and included ABCD1 (PMID:22994209)
• Very long chain fatty acid (VLCFA) is beta-oxidized in ABCD1-dependent pathway, but the ABCD1-independent peroxisomal and mitochondrial beta-oxidation pathways significantly contribute to VLCFA beta-oxidation in astrocytes (PMID:23123468)
• Identification of novel mutations in ABCD1 in unrelated Argentinean X-linked adrenoleukodystrophy patients (PMID:23300730)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcd1	ENSDARG00000074876
mus_musculus	Abcd1	ENSMUSG00000031378
rattus_norvegicus	Abcd1	ENSRNOG00000056524
drosophila_melanogaster	Abcd1	FBGN0039890
caenorhabditis_elegans		WBGENE00004061

Paralogs (3): ABCD3 (ENSG00000117528), ABCD4 (ENSG00000119688), ABCD2 (ENSG00000173208)

Protein

Protein identifiers

ATP-binding cassette sub-family D member 1 — P33897 (reviewed: P33897)

Alternative names: Adrenoleukodystrophy protein

All UniProt accessions (2): P33897, A6NEP8

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen. Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process. Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation. Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Also controls the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs.

Subunit / interactions. Can form homodimers and heterodimers with ABCD2 and ABCD3. Dimerization is necessary to form an active transporter. The minimal functional unit is a homodimer but the major oligomeric form in peroxisomal membrane is a homotetramer. Forms heterotramers with ABCD2. Interacts with PEX19; facilitates ABCD1 insertion into the peroxisome membrane.

Subcellular location. Peroxisome membrane. Mitochondrion membrane. Lysosome membrane. Endoplasmic reticulum membrane.

Post-translational modifications. Tyrosine-phosphorylated.

Disease relevance. Adrenoleukodystrophy (ALD) [MIM:300100] A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and ‘Addison disease only’ (ADO) phenotype. The disease is caused by variants affecting the gene represented in this entry. The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.

Activity regulation. The cysteine-reactive reagent p-chloromercuribenzoic acid (pCMB) strongly decreased the ACOT activity. The serine esterase inhibitors phenylmethylsulfonyl fluoride (PMSF), diisopropylfluorophosphate (DFP) and bis-(4-nitrophenyl)phosphate (BNPP) moderately reduced the ACOT activity. The histidine-reacting reagent diethyl pyrocarbonate (DEPC) has no effect on the ACOT activity.

Domain organisation. The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD).

Induction. Up-regulated by degradation or export of cholesterol.

Similarity. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.

RefSeq proteins (1): NP_000024* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR005283	FA_transporter	Family
IPR011527	ABC1_TM_dom	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036640	ABC1_TM_sf	Homologous_superfamily
IPR050835	ABC_transporter_sub-D	Family

Pfam: PF00005, PF06472

Enzyme classification (BRENDA):

• EC 7.6.2.4 — ABC-type fatty-acyl-CoA transporter (BRENDA: 8 organisms, 66 substrates, 10 inhibitors, 1 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.28	1

Catalyzed reactions (Rhea), 8 shown:

• docosanoyl-CoA + H2O = docosanoate + CoA + H(+) (RHEA:40783)
• tetracosanoyl-CoA + H2O = tetracosanoate + CoA + H(+) (RHEA:40787)
• hexacosanoyl-CoA + H2O = hexacosanoate + CoA + H(+) (RHEA:40791)
• a very long-chain fatty acyl-CoA + H2O = a very long-chain fatty acid + CoA + H(+) (RHEA:67072)
• a very long-chain fatty acid(in) + ATP + H2O = a very long-chain fatty acid(out) + ADP + phosphate + H(+) (RHEA:67080)
• hexacosanoate(in) + ATP + H2O = hexacosanoate(out) + ADP + phosphate + H(+) (RHEA:67084)
• tetracosanoate(in) + ATP + H2O = tetracosanoate(out) + ADP + phosphate + H(+) (RHEA:67088)
• docosanoate(in) + ATP + H2O = docosanoate(out) + ADP + phosphate + H(+) (RHEA:67092)

UniProt features (246 total): sequence variant 142, helix 34, strand 26, mutagenesis site 18, turn 11, transmembrane region 5, region of interest 3, domain 2, chain 1, binding site 1, modified residue 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

14 structures.

PDB	Method	Resolution (Å)
7VX8	ELECTRON MICROSCOPY	2.8
7X0Z	ELECTRON MICROSCOPY	2.96
7SHN	ELECTRON MICROSCOPY	3.1
7SHM	ELECTRON MICROSCOPY	3.14
7X0T	ELECTRON MICROSCOPY	3.3
7X1W	ELECTRON MICROSCOPY	3.3
7XEC	ELECTRON MICROSCOPY	3.34
7YRQ	ELECTRON MICROSCOPY	3.35
7VR1	ELECTRON MICROSCOPY	3.4
7RR9	ELECTRON MICROSCOPY	3.5
7VWC	ELECTRON MICROSCOPY	3.53
7VZB	ELECTRON MICROSCOPY	3.59
7X07	ELECTRON MICROSCOPY	3.78
7RRA	ELECTRON MICROSCOPY	4.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P33897-F1	81.58	0.43

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 (1): 507–514

Post-translational modifications (1): 733

Glycosylation sites (1): 214

Mutagenesis-validated functional residues (18):

Position	Phenotype
67	does not affect pex19 interaction.
68	does not affect pex19 interaction.
69	does not affect pex19 interaction.
70	does not affect pex19 interaction.
71	does not affect pex19 interaction.
72	does not affect pex19 interaction.
73	does not affect pex19 interaction.
74	does not affect pex19 interaction.
75	impairs pex19 interaction.
76	impairs pex19 interaction.
77	does not affect pex19 interaction.
78	impairs pex19 interaction.
79	impairs pex19 interaction.
80	does not affect pex19 interaction.
81	does not affect pex19 interaction.
82	does not affect pex19 interaction.
83	does not affect pex19 interaction.
513	does not affect acot activity. transport activity of vlcfa is strongly reduced.

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-2046105	Linoleic acid (LA) metabolism
R-HSA-2046106	alpha-linolenic acid (ALA) metabolism
R-HSA-390247	Beta-oxidation of very long chain fatty acids
R-HSA-5684045	Defective ABCD1 causes ALD
R-HSA-9603798	Class I peroxisomal membrane protein import
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-2046104	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport
R-HSA-390918	Peroxisomal lipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-5619084	ABC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters
R-HSA-8978868	Fatty acid metabolism
R-HSA-9609507	Protein localization

MSigDB gene sets: 774 (showing top): GOBP_LIPID_MODIFICATION, GOBP_MEMBRANE_DEPOLARIZATION, AP1_01, GOBP_FATTY_ACID_CATABOLIC_PROCESS, BENPORATH_ES_WITH_H3K27ME3, GOBP_INFLAMMATORY_RESPONSE, GOBP_STEROL_HOMEOSTASIS, GOCC_VACUOLAR_MEMBRANE, GOBP_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_PLASMA_MEMBRANE_ORGANIZATION, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_MEMBRANE_DEPOLARIZATION

GO Biological Process (33): very long-chain fatty acid metabolic process (GO:0000038), regulation of oxidative phosphorylation (GO:0002082), fatty acid beta-oxidation (GO:0006635), unsaturated fatty acid biosynthetic process (GO:0006636), peroxisome organization (GO:0007031), long-chain fatty acid import into peroxisome (GO:0015910), peroxisomal membrane transport (GO:0015919), fatty acid elongation (GO:0030497), regulation of fatty acid beta-oxidation (GO:0031998), positive regulation of fatty acid beta-oxidation (GO:0032000), alpha-linolenic acid metabolic process (GO:0036109), very long-chain fatty-acyl-CoA catabolic process (GO:0036113), long-chain fatty acid catabolic process (GO:0042758), long-chain fatty acid biosynthetic process (GO:0042759), very long-chain fatty acid catabolic process (GO:0042760), myelin maintenance (GO:0043217), linoleic acid metabolic process (GO:0043651), regulation of mitochondrial depolarization (GO:0051900), fatty acid homeostasis (GO:0055089), sterol homeostasis (GO:0055092), negative regulation of cytokine production involved in inflammatory response (GO:1900016), regulation of cellular response to oxidative stress (GO:1900407), fatty acid derivative biosynthetic process (GO:1901570), negative regulation of reactive oxygen species biosynthetic process (GO:1903427), neuron projection maintenance (GO:1990535), positive regulation of unsaturated fatty acid biosynthetic process (GO:2001280), fatty acid biosynthetic process (GO:0006633), organophosphate ester transport (GO:0015748), fatty-acyl-CoA transport (GO:0015916), nucleobase-containing compound transport (GO:0015931), regulation of fatty acid metabolic process (GO:0019217), obsolete amide transport (GO:0042886), transmembrane transport (GO:0055085)

GO Molecular Function (19): long-chain fatty acid transmembrane transporter activity (GO:0005324), ATP binding (GO:0005524), ABC-type fatty-acyl-CoA transporter activity (GO:0015607), ATP hydrolysis activity (GO:0016887), enzyme binding (GO:0019899), ATPase-coupled transmembrane transporter activity (GO:0042626), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), ADP binding (GO:0043531), fatty acyl-CoA hydrolase activity (GO:0047617), very long-chain fatty acyl-CoA hydrolase activity (GO:0052817), nucleotide binding (GO:0000166), protein binding (GO:0005515), organophosphate ester transmembrane transporter activity (GO:0015605), nucleobase-containing compound transmembrane transporter activity (GO:0015932), hydrolase activity (GO:0016787), obsolete amide transmembrane transporter activity (GO:0042887), ABC-type transporter activity (GO:0140359), sulfur compound transmembrane transporter activity (GO:1901682)

GO Cellular Component (12): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), membrane (GO:0016020), mitochondrial membrane (GO:0031966), perinuclear region of cytoplasm (GO:0048471), mitochondrion (GO:0005739), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	2
Fatty acid metabolism	2
ABC-family protein mediated transport	1
Peroxisomal lipid metabolism	1
ABC transporter disorders	1
Protein localization	1
Transport of small molecules	1
Metabolism	1
Disorders of transmembrane transporters	1
Disease	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
long-chain fatty acid metabolic process	4
cellular anatomical structure	4
cytoplasm	4
fatty acid catabolic process	3
fatty acid biosynthetic process	3
unsaturated fatty acid metabolic process	3
transmembrane transporter activity	3
long-chain fatty acid transport	2
fatty acid beta-oxidation	2
olefinic compound metabolic process	2
lipid homeostasis	2
adenyl ribonucleotide binding	2
ATP-dependent activity	2
protein binding	2
organelle membrane	2
intracellular membrane-bounded organelle	2
fatty acid metabolic process	1
oxidative phosphorylation	1
regulation of aerobic respiration	1
fatty acid ligase activity	1
fatty acid oxidation	1
organelle organization	1
intercellular transport	1
peroxisomal membrane transport	1
intracellular lipid transport	1
fatty acid transmembrane transport	1
peroxisomal transport	1
regulation of fatty acid oxidation	1
regulation of lipid catabolic process	1
regulation of fatty acid beta-oxidation	1
positive regulation of fatty acid oxidation	1
positive regulation of lipid catabolic process	1
very long-chain fatty-acyl-CoA metabolic process	1
fatty-acyl-CoA catabolic process	1
very long-chain fatty acid metabolic process	1
plasma membrane organization	1
myelination	1
regulation of membrane depolarization	1
regulation of mitochondrial membrane potential	1
mitochondrial depolarization	1

Protein interactions and networks

STRING

986 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCD1	SLC27A2	O14975	912
ABCD1	SPAST	Q9UBP0	890
ABCD1	ACSBG1	Q96GR2	881
ABCD1	BCAP31	P51572	830
ABCD1	PEX19	P40855	761
ABCD1	ACSL3	O95573	722
ABCD1	ACSL6	Q9UKU0	695
ABCD1	PEX13	Q92968	685
ABCD1	PLXNB3	Q9ULL4	676
ABCD1	ACSL4	O60488	675
ABCD1	ELOVL1	Q9BW60	667
ABCD1	ACSL1	P33121	663
ABCD1	COASY	Q13057	638
ABCD1	ACSL5	Q9ULC5	622
ABCD1	PEX11B	O96011	621

IntAct

83 interactions, top by confidence:

A	B	Type	Score
BCL2	BCL2L11	psi-mi:“MI:0914”(association)	0.930
DYNC1I2	DYNC1LI2	psi-mi:“MI:0914”(association)	0.680
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
VASN	AP3B1	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
EDA	AP3B1	psi-mi:“MI:0914”(association)	0.530
ABCD1	ABCD1	psi-mi:“MI:0915”(physical association)	0.510
ABCD1	ABCD3	psi-mi:“MI:0915”(physical association)	0.510
ABCD3	ABCD1	psi-mi:“MI:0915”(physical association)	0.510
PEX19	ABCD1	psi-mi:“MI:0407”(direct interaction)	0.440
ABCD1	PEX19	psi-mi:“MI:0407”(direct interaction)	0.440
ABCD1	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.400
ABCD1	Abcd1	psi-mi:“MI:0915”(physical association)	0.400
Abcd1	ABCD1	psi-mi:“MI:0915”(physical association)	0.400
ABCD1	Abcd3	psi-mi:“MI:0915”(physical association)	0.400
RPSA	ABCD1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (112): ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A125QXJ1, D3ZHR2, E7F6F7, G5EFD4, H2LNR5, O15440, O70595, O75027, P21441, P21958, P33897, P36370, P48410, P70170, P82451, P9WEL8, Q02592, Q08D64, Q09427, Q09428, Q09429, Q10185, Q2UPC0, Q42093, Q4WA92, Q4WPP6, Q61102, Q63120, Q63563, Q704E8, Q751N2, Q7DM58, Q8LPQ6, Q8RY46, Q92887, Q96J65, Q9C8G9, Q9C8H0, Q9C8H1, Q9DC29

Diamond homologs: A0A0U1LQE1, B2RX12, D3ZHR2, F1RBC8, O15438, O15439, O88563, P16877, P16970, P21441, P28288, P31826, P33897, P34230, P41909, P48410, P55096, P77279, P9WQI8, P9WQI9, Q1C812, Q1CJG3, Q1LKJ2, Q1QR47, Q21PQ7, Q54W19, Q57335, Q5E6M2, Q5F364, Q61285, Q66AT7, Q7CIC2, Q7JUN3, Q8T8P3, Q94FB9, Q9I3N7, Q9QY44, Q9UBJ2, Q9Z651, S8EXU2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 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
Cardiac conduction	5	11.8×	5e-03
Transport of small molecules	12	6.6×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

2279 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	352
Likely pathogenic	192
Uncertain significance	618
Likely benign	798
Benign	68

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1037296	NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)	Pathogenic
1039444	NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)	Pathogenic
1068643	NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)	Pathogenic
1068922	NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)	Pathogenic
1068950	NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)	Pathogenic
1071003	NC_000023.10:g.(?153002601)(153002715_?)del	Pathogenic
1071153	NC_000023.10:g.(?152990722)(153009189_?)del	Pathogenic
1071155	NC_000023.10:g.(?153001789)(153009189_?)del	Pathogenic
1072284	NM_000033.4(ABCD1):c.668_900+291del	Pathogenic
1072765	NM_000033.4(ABCD1):c.697del (p.Ala233fs)	Pathogenic
1072909	NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)	Pathogenic
1073715	NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)	Pathogenic
1075470	NM_000033.4(ABCD1):c.36dup (p.Asn13fs)	Pathogenic
1076654	NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)	Pathogenic
11292	NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)	Pathogenic
11294	NM_000033.4(ABCD1):c.1635-2A>G	Pathogenic
11298	NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)	Pathogenic
11299	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	Pathogenic
11303	NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	Pathogenic
11306	NM_000033.4(ABCD1):c.1552del (p.Arg518fs)	Pathogenic
11308	NM_000033.4(ABCD1):c.1634+1G>A	Pathogenic
11309	NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)	Pathogenic
11310	NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	Pathogenic
11311	NM_000033.4(ABCD1):c.1820del (p.Gly607fs)	Pathogenic
11317	NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)	Pathogenic
1204276	NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)	Pathogenic
1207933	NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)	Pathogenic
1213362	NM_000033.4(ABCD1):c.901-1G>A	Pathogenic
1297042	NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)	Pathogenic
1299210	NM_000033.4(ABCD1):c.832dup (p.Glu278fs)	Pathogenic

SpliceAI

1909 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153729408:GTCAG:G	donor_gain	1.0000
X:153729409:TCAGG:T	donor_loss	1.0000
X:153729410:CAGG:C	donor_loss	1.0000
X:153729411:AGGTG:A	donor_loss	1.0000
X:153729412:GGTG:G	donor_loss	1.0000
X:153729413:G:GC	donor_loss	1.0000
X:153729414:T:G	donor_loss	1.0000
X:153736110:A:AG	acceptor_gain	1.0000
X:153736111:G:GA	acceptor_gain	1.0000
X:153736251:GGAG:G	donor_gain	1.0000
X:153736251:GGAGG:G	donor_loss	1.0000
X:153736252:G:GT	donor_gain	1.0000
X:153736252:G:T	donor_gain	1.0000
X:153736252:GAGGT:G	donor_loss	1.0000
X:153736253:AG:A	donor_loss	1.0000
X:153736254:GG:G	donor_loss	1.0000
X:153737155:A:AG	acceptor_gain	1.0000
X:153737156:G:GG	acceptor_gain	1.0000
X:153737248:CAGGG:C	donor_loss	1.0000
X:153737249:AGGG:A	donor_loss	1.0000
X:153737250:GG:G	donor_gain	1.0000
X:153737250:GGGTA:G	donor_loss	1.0000
X:153737251:GG:G	donor_gain	1.0000
X:153737253:TAGGT:T	donor_loss	1.0000
X:153740234:AGAGG:A	donor_loss	1.0000
X:153740235:GAG:G	donor_gain	1.0000
X:153740235:GAGGT:G	donor_loss	1.0000
X:153740237:GGT:G	donor_loss	1.0000
X:153740238:GTAA:G	donor_loss	1.0000
X:153740239:T:A	donor_loss	1.0000

AlphaMissense

4755 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:153743039:G:C	Q611H	1.000
X:153743039:G:T	Q611H	1.000
X:153743243:G:A	E630K	1.000
X:153743252:A:C	S633R	1.000
X:153743254:C:A	S633R	1.000
X:153743254:C:G	S633R	1.000
X:153740122:G:C	G507R	0.999
X:153740123:G:A	G507D	0.999
X:153740123:G:T	G507V	0.999
X:153740130:T:A	N509K	0.999
X:153740130:T:G	N509K	0.999
X:153740138:G:A	G512D	0.999
X:153740138:G:T	G512V	0.999
X:153740140:A:C	K513Q	0.999
X:153740141:A:T	K513M	0.999
X:153740143:A:C	S514R	0.999
X:153740145:C:A	S514R	0.999
X:153740145:C:G	S514R	0.999
X:153740235:G:C	Q544H	0.999
X:153740235:G:T	Q544H	0.999
X:153743052:G:C	A616P	0.999
X:153743232:C:A	A626D	0.999
X:153743240:G:C	D629H	0.999
X:153743241:A:C	D629A	0.999
X:153743241:A:T	D629V	0.999
X:153743242:T:A	D629E	0.999
X:153743242:T:G	D629E	0.999
X:153743243:G:C	E630Q	0.999
X:153743244:A:C	E630A	0.999
X:153743244:A:G	E630G	0.999

dbSNP variants (sampled 300 via entrez): RS1000927744 (X:153727458 G>A,C), RS1000958675 (X:153727203 A>G), RS1001004037 (X:153735381 C>A,T), RS1001538411 (X:153734818 G>A), RS1001592745 (X:153724755 C>T), RS1001622413 (X:153724516 G>A,T), RS1001863477 (X:153739258 A>G), RS1001915953 (X:153738956 C>A), RS1002454075 (X:153735936 T>C,G), RS1003296272 (X:153723031 G>A), RS1003482239 (X:153729963 G>A,T), RS1003541336 (X:153737712 A>G), RS1003591837 (X:153737387 A>C,G), RS1003754306 (X:153730247 G>A), RS1004076393 (X:153730285 G>A,T)

Disease associations

OMIM: gene MIM:300371 | disease phenotypes: MIM:300100, MIM:261100, MIM:618882, MIM:300106, MIM:240200, MIM:300260, MIM:300815, MIM:209850, MIM:202370, MIM:300049, MIM:300352, MIM:302060, MIM:304120, MIM:309350, MIM:305620, MIM:619061, MIM:300475, MIM:300908, MIM:127550, MIM:614228, MIM:225400, MIM:300673

GenCC curated gene-disease

Disease	Classification	Inheritance
adrenoleukodystrophy	Definitive	X-linked
X-linked cerebral adrenoleukodystrophy	Definitive	X-linked
hereditary spastic paraplegia	Strong	X-linked
Imerslund-Grasbeck syndrome type 1	Strong	Autosomal recessive
Imerslund-Grasbeck syndrome type 2	Strong	Autosomal recessive
Imerslund-Grasbeck syndrome	Supportive	Autosomal recessive
adrenomyeloneuropathy	Supportive	X-linked
Hirschsprung disease	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
adrenoleukodystrophy	Definitive	XL

Mondo (33): adrenoleukodystrophy (MONDO:0018544), Imerslund-Grasbeck syndrome (MONDO:0009853), Imerslund-Grasbeck syndrome type 1 (MONDO:0100156), Imerslund-Grasbeck syndrome type 2 (MONDO:0100157), X-linked spondyloepimetaphyseal dysplasia (MONDO:0010248), chronic primary adrenal insufficiency (MONDO:0015129), congenital nervous system disorder (MONDO:0002320), intellectual disability (MONDO:0001071), X-linked cerebral adrenoleukodystrophy (MONDO:0010247), syndromic X-linked intellectual disability Lubs type (MONDO:0010283), chromosome Xq28 duplication syndrome (MONDO:0010436), autism (MONDO:0005260), peroxisome biogenesis disorder 2B (MONDO:0008736), heterotopia, periventricular, X-linked dominant (MONDO:0010233), creatine transporter deficiency (MONDO:0010305)

Orphanet (26): X-linked adrenoleukodystrophy (Orphanet:43), Imerslund-Gräsbeck syndrome (Orphanet:35858), X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349), Chronic primary adrenal insufficiency (Orphanet:101959), X-linked cerebral adrenoleukodystrophy (Orphanet:139396), Proximal Xq28 duplication syndrome (Orphanet:1762), Neonatal adrenoleukodystrophy (Orphanet:44), Barth syndrome (Orphanet:111), Frontometaphyseal dysplasia (Orphanet:1826), Nodular neuronal heterotopia (Orphanet:2149), Melnick-Needles syndrome (Orphanet:2484), Emery-Dreifuss muscular dystrophy (Orphanet:261), X-linked creatine transporter deficiency (Orphanet:52503), OBSOLETE: Otopalatodigital syndrome (Orphanet:669), Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004)

HPO phenotypes

148 total (30 of 148 shown, HPO-id order):

HPO	Term
HP:0000012	Urinary urgency
HP:0000016	Urinary retention
HP:0000020	Urinary incontinence
HP:0000026	Male hypogonadism
HP:0000135	Hypogonadism
HP:0000317	Facial myokymia
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000572	Visual loss
HP:0000618	Blindness
HP:0000657	Oculomotor apraxia
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000726	Dementia
HP:0000736	Short attention span
HP:0000752	Hyperactivity
HP:0000764	Peripheral axonal degeneration
HP:0000802	Impotence
HP:0000835	Adrenal hypoplasia
HP:0000846	Adrenal insufficiency
HP:0000849	Adrenocortical abnormality
HP:0000953	Hyperpigmentation of the skin
HP:0001000	Abnormality of skin pigmentation
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001258	Spastic paraplegia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_8	Body mass index	7.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (22)

Descriptor	Name	Tree numbers
D000224	Addison Disease	C19.053.500.263; C20.111.163
D000326	Adrenoleukodystrophy	C10.228.140.163.100.084; C10.228.140.163.100.362.250; C10.228.140.695.625.250; C10.314.400.250; C10.597.606.360.455.124; C16.320.322.500.124; C16.320.400.525.124; C16.320.565.189.084; C16.320.565.189.362.250; C16.320.565.663.100; C18.452.132.100.084; C18.452.132.100.362.250; C18.452.648.189.084; C18.452.648.189.362.250; C18.452.648.663.100; C19.053.500.270
D001321	Autistic Disorder	F03.625.164.113.500
D056889	Barth Syndrome	C14.240.400.172; C14.280.400.172; C16.131.077.121; C16.131.240.400.172; C16.320.322.068; C16.320.565.398.224; C18.452.584.563.224; C18.452.648.398.224
D019871	Dyskeratosis Congenita	C15.378.190.223.500.750; C16.131.831.150; C16.320.322.108; C16.320.850.235; C17.800.804.150; C17.800.827.235
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
D014806	Vitamin B 12 Deficiency	C18.654.521.500.133.699.923
D000083143	X-Linked Emery-Dreifuss Muscular Dystrophy	C05.651.534.500.350.500; C10.668.491.175.500.350.500; C16.320.322.625.500; C16.320.577.350.500
C567533	Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (supp.)
C567580	Chromosome Xq28 Duplication Syndrome (supp.)
C564508	Contiguous Abcd1-Dxs1375e Deletion Syndrome (supp.)
C535598	Creatine deficiency, X-linked (supp.)
C536198	Ehlers-Danlos syndrome type 6 (supp.)
C566878	Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (supp.)
C538064	Frontometaphyseal dysplasia (supp.)
C531684	Hereditary spinal ataxia (supp.)
C538556	Imerslund-Grasbeck syndrome (supp.)
C537723	Lubs X-linked mental retardation syndrome (supp.)
C538089	Oto-palato-digital syndrome, type 2 (supp.)
C564714	Spondyloepimetaphyseal Dysplasia, X-Linked (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17091297	ABCD1, BCAP31		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — ABCD subfamily of peroxisomal ABC transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
titanium dioxide	increases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
AC 93253	decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Methotrexate	decreases expression	1
Ribonucleotides	affects binding	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1

Cellosaurus cell lines

32 cell lines: 22 induced pluripotent stem cell, 5 cancer cell line, 3 embryonic stem cell, 1 transformed cell line, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A3SS	HPS1091	Induced pluripotent stem cell	Male
CVCL_A3ST	HPS1092	Induced pluripotent stem cell	Male
CVCL_A3SU	HPS1093	Induced pluripotent stem cell	Male
CVCL_A3SV	HPS1094	Induced pluripotent stem cell	Male
CVCL_A3SW	HPS1095	Induced pluripotent stem cell	Male
CVCL_A3SX	HPS1097	Induced pluripotent stem cell	Male
CVCL_A3SY	HPS1098	Induced pluripotent stem cell	Male
CVCL_A3SZ	HPS1099	Induced pluripotent stem cell	Male
CVCL_A3TA	HPS1100	Induced pluripotent stem cell	Male
CVCL_A3TB	HPS1101	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT05003648	PHASE4	ACTIVE_NOT_RECRUITING	Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT00975078	PHASE4	COMPLETED	Test Predicting Adrenal Insufficiency in Volunteers Under Prednisone Treatment
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
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NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
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NCT02254863	PHASE1	RECRUITING	UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
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