CERT1

Summary

CERT1 (ceramide transporter 1, HGNC:2205) is a protein-coding gene on chromosome 5q13.3, encoding Ceramide transfer protein (Q9Y5P4). Shelters ceramides inside its steroidogenic acute regulatory lipid transfer (START) domain and mediates their intracellular trafficking in a non-vesicular manner from the endoplasmic reticulum to the Golgi apparatus for conversion to sphingomyelin.

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10087 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability, autosomal dominant 34 (Definitive, GenCC)
• GWAS associations: 17
• Clinical variants (ClinVar): 273 total — 8 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 26
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001379029

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2205
Approved symbol	CERT1
Name	ceramide transporter 1
Location	5q13.3
Locus type	gene with protein product
Status	Approved
Aliases	GPBP, STARD11, CERT
Ensembl gene	ENSG00000113163
Ensembl biotype	protein_coding
OMIM	604677
Entrez	10087

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 29 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000261415, ENST00000357457, ENST00000380494, ENST00000405807, ENST00000508692, ENST00000508809, ENST00000604926, ENST00000642225, ENST00000642488, ENST00000642556, ENST00000642809, ENST00000643158, ENST00000643380, ENST00000643773, ENST00000643780, ENST00000644072, ENST00000644128, ENST00000644377, ENST00000644445, ENST00000644516, ENST00000644912, ENST00000645483, ENST00000645866, ENST00000646172, ENST00000646302, ENST00000646511, ENST00000646713, ENST00000647127, ENST00000647512, ENST00000863484, ENST00000863485, ENST00000863486, ENST00000863487, ENST00000863488, ENST00000937616, ENST00000957919, ENST00000957920

RefSeq mRNA: 7 — MANE Select: NM_001379029 NM_001130105, NM_001379002, NM_001379003, NM_001379004, NM_001379029, NM_005713, NM_031361

CCDS: CCDS4028, CCDS4029, CCDS47235, CCDS93736

Canonical transcript exons

ENST00000643780 — 17 exons

Exon	Start	End
ENSE00000753618	75385902	75386034
ENSE00000753620	75399310	75399387
ENSE00000753621	75400205	75400297
ENSE00000827212	75381072	75381201
ENSE00000827216	75389592	75389687
ENSE00000827218	75402972	75403058
ENSE00000827219	75411011	75411103
ENSE00001156843	75416876	75417033
ENSE00001156850	75419341	75419424
ENSE00001156856	75425361	75425499
ENSE00001156862	75426371	75426478
ENSE00001288002	75505982	75506116
ENSE00001288014	75459065	75459181
ENSE00003460590	75384642	75384712
ENSE00003597279	75381949	75382077
ENSE00003821032	75511112	75511629
ENSE00003824464	75377775	75379473

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 97.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.6174 / max 223.1221, expressed in 1795 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62135	16.1462	1795
62134	0.1855	65
62137	0.1419	66
62136	0.0865	40
62138	0.0574	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.43	gold quality
male germ cell	CL:0000015	96.88	gold quality
cerebellar vermis	UBERON:0004720	96.49	gold quality
medial globus pallidus	UBERON:0002477	96.22	gold quality
adrenal tissue	UBERON:0018303	95.93	gold quality
globus pallidus	UBERON:0001875	95.25	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.94	gold quality
substantia nigra pars compacta	UBERON:0001965	94.71	gold quality
tendon of biceps brachii	UBERON:0008188	94.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.24	gold quality
pons	UBERON:0000988	94.10	gold quality
monocyte	CL:0000576	93.87	gold quality
cervix squamous epithelium	UBERON:0006922	93.55	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.39	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.20	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.19	gold quality
dorsal root ganglion	UBERON:0000044	93.18	gold quality
mononuclear cell	CL:0000842	93.12	gold quality
amniotic fluid	UBERON:0000173	93.11	gold quality
leukocyte	CL:0000738	92.98	gold quality
visceral pleura	UBERON:0002401	92.97	gold quality
parietal pleura	UBERON:0002400	92.92	gold quality
colonic epithelium	UBERON:0000397	92.44	gold quality
superior vestibular nucleus	UBERON:0007227	92.32	gold quality
trabecular bone tissue	UBERON:0002483	92.22	gold quality
epithelium of nasopharynx	UBERON:0001951	92.15	gold quality
bone marrow	UBERON:0002371	92.12	gold quality
trigeminal ganglion	UBERON:0001675	92.08	gold quality
vena cava	UBERON:0004087	91.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.52

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB

miRNA regulators (miRDB)

229 targeting CERT1, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• CERT mediates the intracellular trafficking of ceramide in a non-vesicular manner (PMID:14685229)
• results indicate that CERT can mediate transfer of various types of ceramides that naturally exist and their close relatives (PMID:15596449)
• crypticity is a feature of the quaternary structure of two subsets of alpha3alpha4alpha5(IV) NC1 hexamers: autoantibody-reactive M-hexamers containing only monomer subunits and autoantibody-impenetrable D-hexamers composed of dimer and monomer subunits (PMID:15917228)
• Results identify a human-specific TNF-responsive transcriptional unit that locates GPBP in the signalling cascade of TNF and substantiates previous observations, which independently related TNF and GPBP with human autoimmunity. (PMID:16218959)
• A clinical evaluation of probands and their relatives of the five families carrying mutations in either the COL4A3 or the COL4A4 gene was carried out to underline the natural history of the autosomal recessive ATS. (PMID:16338941)
• Regulation of ceramide transport protein by oxysterol binding protein, and VAMP reveals a novel mechanism for ceramide transport and sphingophingomyelin synthesis in the Golgi apparatus. (PMID:16571669)
• The Golgi-targeting domain and endoplasmic reticulum-interacting FFAT amino acid motif of CERT spatially restrict the random ceramide transfer activity of the START domain in cells. (PMID:16895911)
• A clinical evaluation of probands and their relatives of the five families carrying mutations in either the COL4A3 or the COL4A4 gene was carried out to underline the natural history of the autosomal recessive ATS. (PMID:16970251)
• Data show that CERT receives multiple phosphorylations at a serine-repeat motif, a possibe site for casein kinase I, and that the phosphorylation down-regulates the ER-to-Golgi transport of ceramide. (PMID:17442665)
• Regulation of secretory transport by PKD-mediated phosphorylation of CERT is reported. (PMID:17591919)
• GPBP regulates GBM collagen organization and its elevated expression causes dissociation and subsequent accumulation of IgA on the GBM. (PMID:17916599)
• CERT is a physiological substrate of PP2Cepsilon and that dephosphorylation of CERT by PP2Cepsilon may play an important role in the regulation of ceramide trafficking from the ER to the Golgi apparatus. (PMID:18165232)
• analysis of the mechanism by which CERT can distinguish ceramide from other lipid types yet still recognize multiple species of ceramides (PMID:18184806)
• healthy individuals have low frequencies of unstimulated alpha3(IV)NC1-reactive T cells with similar specificities to the autoreactive T cells found in patients with Goodpasture disease (PMID:18216317)
• CERT can attenuate a key metabolic protective mechanism against ceramide-induced apoptosis in keratinocytes (PMID:18411267)
• Goodpasture antigen-binding protein is a soluble exportable protein that interacts with type IV collagen (PMID:18772132)
• These results indicate that CKIgamma2 hyperphosphorylates the serine-repeat motif of CERT, thereby inactivating CERT and down-regulating the synthesis of sphingomyelin. (PMID:19005213)
• the allergen causing the most food-induced anaphylaxis in Italy (PMID:19494524)
• Crystal structures of the CERT START domain in complex with HPAs ((1R,3R)-N-(3-Hydroxy-1-hydroxymethyl-3-phenylpropyl)alkanamide) of varying acyl chain lengths. (PMID:20036255)
• hBVR is a regulator of the TNF-alpha-GPBP-collagen type IV signaling cascade (PMID:20177069)
• the membrane matrix surrounding ceramide, that is ceramide miscibility, is largely affecting the transfer activity of CERT (PMID:20875392)
• PKD negatively regulates HCV secretion/release by attenuating OSBP and CERT functions by phosphorylation inhibition. This study identifies the key role of the Golgi components in the HCV maturation process. (PMID:21285358)
• This review is focused on ceramide transfer protein (CERT) as a major regulator of ceramide flux in the cell. [review] (PMID:21707482)
• the presence of IncD, CERT, VAPA/B, and potentially additional host and/or bacterial factors, at points of contact between the ER and the inclusion membrane provides a specialized microenvironment favorable to bacterial development. (PMID:21731489)
• GPBP directs myofibril formation through interaction with intracellular downstream effector 130-kDa GPBP-interacting protein (PMID:21832087)
• We hypothesize that sphingomyelin acquired by CERT-dependent transport of ceramide and subsequent conversion to SM is necessary for C. trachomatis replication whereas SM acquired by GBF1-dependent pathway is essential for inclusion growth and stability. (PMID:21909260)
• during cellular stress, disassembly of Golgi structure together with inactivation of CERT by caspases causes a reduction in ceramide trafficking and sphingomyelin synthesis, and could contribute to the cellular response to pro-apoptotic stress (PMID:22129459)
• CERT is at a convergence point of non-vesicular and vesicular transport processes and plays a central role within the PKD signaling network at the Golgi complex. (Review) (PMID:22226883)
• The START domain in GPBP is important for this interaction. SAP and GPBP form complexes in blood and partly colocalize in amyloid plaques from Alzheimer disease patients. (PMID:22396542)
• Loss of the ceramide transfer protein augments EGF receptor signaling in breast cancer. (PMID:22472120)
• Structural basis for the Golgi association by the pleckstrin homology domain of the ceramide trafficking protein (CERT) (PMID:22869376)
• Both CERT isoforms, when immobilized, bind the globular head region of C1q and initiate the classical complement pathway. C1q binds endogenous CERTL on the surface of apoptotic cells. (PMID:24395916)
• phosphorylation of CERT at the FFAT motif-adjacent serine affects its affinity for VAP, which may regulate the inter-organelle trafficking of ceramide in response to the perturbation of cellular sphingomyelin and/or other sphingolipids (PMID:24569996)
• Cells expressing mitoCERT import ceramides into mitochondria and undergo Bax-dependent apoptosis. (PMID:27888218)
• Data suggest that isolated PH and START domains of CERT interact with each other; START domain binds to PH domain at same site for PtdIns[4]P-binding; mutations disrupting PH-START interaction increase both PtdIns[4]P-binding affinity and ceramide transfer activity. (PH domain = N-terminal pleckstrin homology domain; START domain = StAR-related lipid transfer domain; PtdIns[4]P = phosphatidylinositol 4-phosphate) (PMID:28652409)
• Importance of Endoplasmic reticulum to Golgi ceramide traffic to preserve muscle cell insulin signaling, CERT as a major actor in this process. (PMID:29759974)
• the size and number of multivesicular bodies were comparable in WT and STARD11-knockout cells. In conclusion, we propose a model of how STARD11 mediates ceramide trafficking in palmitate-treated cells and stimulates exosome biogenesis. (PMID:30139741)
• findings reveal the presence of GPBP in unicellular protists, with GPBP-2 as the most ancient isoform. In vertebrates, GPBP-1 assumed extracellular function that is further enhanced by membrane-bound GPBP-3 in mammalians, whereas GPBP-2 retained intracellular function. (PMID:30377252)
• Immunofluorescence Labeling of Lipid-Binding Proteins CERTs to Monitor Lipid Raft Dynamics. (PMID:32770516)
• A switchable ceramide transfer protein for dissecting the mechanism of ceramide-induced mitochondrial apoptosis. (PMID:33058150)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cert1b	ENSDARG00000102372
mus_musculus	Cert1	ENSMUSG00000021669
rattus_norvegicus	Cert1	ENSRNOG00000015686
drosophila_melanogaster	cert	FBGN0027569
caenorhabditis_elegans	F25H2.6	WBGENE00009120

Paralogs (5): PLEKHA8 (ENSG00000106086), PLEKHA3 (ENSG00000116095), GLTP (ENSG00000139433), GLTPD2 (ENSG00000182327), CPTP (ENSG00000224051)

Protein

Protein identifiers

Ceramide transfer protein — Q9Y5P4 (reviewed: Q9Y5P4)

Alternative names: Collagen type IV alpha-3-binding protein, Goodpasture antigen-binding protein, START domain-containing protein 11, StAR-related lipid transfer protein 11

All UniProt accessions (19): Q9Y5P4, A0A0A0MRE4, A0A2R8Y3S9, A0A2R8Y5G0, A0A2R8Y5H3, A0A2R8Y5S9, A0A2R8Y773, A0A2R8Y7C5, A0A2R8Y7Q9, A0A2R8YCI0, A0A2R8YDX6, A0A2R8YE18, A0A2R8YE59, A0A2R8YEA4, A0A2R8YEK8, A0A2R8YFA1, A0A2R8YFI2, A0A2U3TZL3, H0Y9J1

UniProt curated annotations — full annotation on UniProt →

Function. Shelters ceramides inside its steroidogenic acute regulatory lipid transfer (START) domain and mediates their intracellular trafficking in a non-vesicular manner from the endoplasmic reticulum to the Golgi apparatus for conversion to sphingomyelin. Efficiently transfers ceramide molecules having long-chain fatty chains, but not those with very long acyl chains. Capable of transferring diacylglycerol, although with very low efficiency.

Subunit / interactions. Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with VAPA. Interacts (via FFAT motif) with MOSPD2 (via MSP domain).

Subcellular location. Cytoplasm. Golgi apparatus. Endoplasmic reticulum.

Tissue specificity. Widely expressed.

Post-translational modifications. Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. Inactivated by hyperphosphorylation of serine residues by CSNK1G2/CK1 that triggers dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis.

Disease relevance. Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (NEDHSF) [MIM:616351] An autosomal dominant disorder characterized by mild to profound developmental delay with hypotonia, delayed motor skills, impaired intellectual development, poor or absent speech, and behavioral abnormalities. Some patients are non-verbal and non-ambulatory. Additional features may include early feeding difficulties, poor overall growth, seizures, brain imaging abnormalities, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids. The PH domain targets the Golgi apparatus. The FFAT motif is required for interaction with VAPA, VAPB and MOSPD2.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y5P4-1	1, CERTL	yes
Q9Y5P4-2	2, Delta26, GPBPD26, CERT
Q9Y5P4-3	3

RefSeq proteins (7): NP_001123577, NP_001365931, NP_001365932, NP_001365933, NP_001365958, NP_005704, NP_112729 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR002913	START_lipid-bd_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR023393	START-like_dom_sf	Homologous_superfamily
IPR041952	STARD11_START	Domain
IPR051213	START_lipid_transfer	Family

Pfam: PF00169, PF01852

Enzyme classification (BRENDA):

• EC 2.7.11.9 — Goodpasture-antigen-binding protein kinase (BRENDA: 5 organisms, 15 substrates, 1 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 11 shown:

• N-hexadecanoylsphing-4-enine(in) = N-hexadecanoylsphing-4-enine(out) (RHEA:45720)
• an N-acylsphing-4-enine(in) = an N-acylsphing-4-enine(out) (RHEA:76987)
• N-tetradecanoylsphing-4-enine(in) = N-tetradecanoylsphing-4-enine(out) (RHEA:85987)
• N-octadecanoylsphing-4-enine(in) = N-octadecanoylsphing-4-enine(out) (RHEA:85991)
• N-eicosanoyl-sphing-4-enine(in) = N-eicosanoyl-sphing-4-enine(out) (RHEA:85995)
• N-(docosanoyl)-sphing-4-enine(in) = N-(docosanoyl)-sphing-4-enine(out) (RHEA:85999)
• N-(15Z-tetracosenoyl)-sphing-4-enine(in) = N-(15Z-tetracosenoyl)-sphing-4-enine(out) (RHEA:86003)
• N-hexadecanoylsphinganine(in) = N-hexadecanoylsphinganine(out) (RHEA:86007)
• an N-acylsphinganine(in) = an N-acylsphinganine(out) (RHEA:86011)
• N-hexadecanoyl-(4R)-hydroxysphinganine(in) = N-hexadecanoyl-(4R)-hydroxysphinganine(out) (RHEA:86015)
• an N-acyl-(4R)-4-hydroxysphinganine(in) = an N-acyl-(4R)-4-hydroxysphinganine(out) (RHEA:86019)

UniProt features (63 total): strand 23, modified residue 8, mutagenesis site 7, helix 7, binding site 4, sequence variant 4, domain 2, splice variant 2, chain 1, region of interest 1, turn 1, coiled-coil region 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

27 structures.

PDB	Method	Resolution (Å)
2E3N	X-RAY DIFFRACTION	1.4
2E3P	X-RAY DIFFRACTION	1.4
2E3O	X-RAY DIFFRACTION	1.55
5ZYK	X-RAY DIFFRACTION	1.55
2E3R	X-RAY DIFFRACTION	1.65
3H3S	X-RAY DIFFRACTION	1.66
2Z9Z	X-RAY DIFFRACTION	1.74
4HHV	X-RAY DIFFRACTION	1.75
2Z9Y	X-RAY DIFFRACTION	1.8
5ZYG	X-RAY DIFFRACTION	1.8
5ZYL	X-RAY DIFFRACTION	1.8
6IF0	X-RAY DIFFRACTION	1.8
6J0O	X-RAY DIFFRACTION	1.8
6J81	X-RAY DIFFRACTION	1.8
3H3R	X-RAY DIFFRACTION	1.85
5ZYI	X-RAY DIFFRACTION	1.9
5ZYJ	X-RAY DIFFRACTION	1.9
5ZYM	X-RAY DIFFRACTION	1.9
6IEZ	X-RAY DIFFRACTION	1.9
2E3S	X-RAY DIFFRACTION	1.94
5ZYH	X-RAY DIFFRACTION	1.95
3H3Q	X-RAY DIFFRACTION	2
2E3Q	X-RAY DIFFRACTION	2.08
2E3M	X-RAY DIFFRACTION	2.2
3H3T	X-RAY DIFFRACTION	2.4
5JJD	X-RAY DIFFRACTION	2.4
2RSG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y5P4-F1	77.75	0.47

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 (4): 579; 472; 493; 530

Post-translational modifications (8): 126, 132, 135, 315, 372, 373, 377, 380

Mutagenesis-validated functional residues (7):

Position	Phenotype
132	abolishes the phosphorylation. strongly reduces the interaction with phosphatidylinositol 4-phosphate. increases the cer
324	impairs the endoplasmic reticulum-to-golgi ceramide trafficking and abolishes the interaction with vapa and mospd2.
472	reduces ceramide transfer.
493	no effect on ceramide transfer activity.
499	reduces affinity for membranes. abolishes ceramide transfer; when associated with a-588.
530	reduces ceramide transfer.
588	abolishes ceramide transfer; when associated with a-499.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1660661	Sphingolipid de novo biosynthesis

MSigDB gene sets: 379 (showing top): RNGTGGGC_UNKNOWN, RRAGTTGT_UNKNOWN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_SPHINGOMYELIN_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_LIPID_HOMEOSTASIS, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT

GO Biological Process (22): cell morphogenesis (GO:0000902), in utero embryonic development (GO:0001701), heart morphogenesis (GO:0003007), ceramide metabolic process (GO:0006672), sphingomyelin biosynthetic process (GO:0006686), muscle contraction (GO:0006936), immune response (GO:0006955), mitochondrion organization (GO:0007005), endoplasmic reticulum organization (GO:0007029), signal transduction (GO:0007165), cell population proliferation (GO:0008283), response to endoplasmic reticulum stress (GO:0034976), ER to Golgi ceramide transport (GO:0035621), ceramide transport (GO:0035627), lipid homeostasis (GO:0055088), intermembrane lipid transfer (GO:0120009), intermembrane sphingolipid transfer (GO:0120012), receptor recycling (GO:0001881), lipid transport (GO:0006869), endosome organization (GO:0007032), retrograde transport, endosome to Golgi (GO:0042147), ceramide 1-phosphate transport (GO:1902389)

GO Molecular Function (10): kinase activity (GO:0016301), identical protein binding (GO:0042802), phosphatidylinositol-4-phosphate binding (GO:0070273), ceramide binding (GO:0097001), lipid transfer activity (GO:0120013), ceramide transfer activity (GO:0120017), ceramide 1-phosphate binding (GO:1902387), ceramide 1-phosphate transfer activity (GO:1902388), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (15): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), endoplasmic reticulum-trans-Golgi network membrane contact site (GO:0160258), cytoplasm (GO:0005737), endosome (GO:0005768), early endosome (GO:0005769), endoplasmic reticulum (GO:0005783), trans-Golgi network (GO:0005802), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle (GO:0031410), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Sphingolipid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	6
cellular anatomical structure	4
intracellular membrane-bounded organelle	3
endomembrane system	3
organelle organization	2
endomembrane system organization	2
cellular process	2
lipid transport	2
nitrogen compound transport	2
intermembrane lipid transfer	2
anion binding	2
ceramide binding	2
binding	2
endosome	2
anatomical structure morphogenesis	1
chordate embryonic development	1
heart development	1
animal organ morphogenesis	1
sphingolipid metabolic process	1
sphingomyelin metabolic process	1
phospholipid biosynthetic process	1
sphingolipid biosynthetic process	1
muscle system process	1
immune system process	1
response to stimulus	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular response to stress	1
intracellular lipid transport	1
ceramide transport	1
chemical homeostasis	1
membrane organization	1
endocytosis	1
receptor metabolic process	1
transport	1
lipid localization	1
vesicle organization	1
transferase activity, transferring phosphorus-containing groups	1

Protein interactions and networks

STRING

1162 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CERT1	VAPA	Q9P0L0	980
CERT1	VAPB	O95292	856
CERT1	COL4A3	Q01955	831
CERT1	PCTP	Q9UKL6	799
CERT1	COL18A1	P39060	797
CERT1	APCS	P02743	779
CERT1	PLEK2	Q9NYT0	749
CERT1	PLEK	P08567	748
CERT1	STARD3	Q14849	729
CERT1	STAR	P49675	718
CERT1	ARF1	P10947	700
CERT1	STARD10	Q9Y365	689
CERT1	STARD7	Q9NQZ5	689
CERT1	PITPNM1	O00562	671
CERT1	GLTP	Q9NZD2	657

IntAct

60 interactions, top by confidence:

A	B	Type	Score
CERT1	CSNK1G2	psi-mi:“MI:0915”(physical association)	0.800
CSNK1G2	CERT1	psi-mi:“MI:0915”(physical association)	0.800
CERT1	ARL6IP1	psi-mi:“MI:0915”(physical association)	0.740
ARL6IP1	CERT1	psi-mi:“MI:0915”(physical association)	0.740
ITGB3BP	CERT1	psi-mi:“MI:0915”(physical association)	0.670
RTN4	CERT1	psi-mi:“MI:0915”(physical association)	0.670
RTN3	CERT1	psi-mi:“MI:0915”(physical association)	0.670
CERT1	RTN3	psi-mi:“MI:0915”(physical association)	0.670
CERT1	RTN4	psi-mi:“MI:0915”(physical association)	0.670
STXBP3	STX4	psi-mi:“MI:0914”(association)	0.640
EXOSC3	MTREX	psi-mi:“MI:0914”(association)	0.640
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
CERT1	ACTL8	psi-mi:“MI:0915”(physical association)	0.560
CERT1	CERT1	psi-mi:“MI:0915”(physical association)	0.550
ENTPD7	PGK2	psi-mi:“MI:0914”(association)	0.530
EYA1	PTPN9	psi-mi:“MI:0914”(association)	0.530

BioGRID (84): COL4A3BP (Two-hybrid), COL4A3BP (Two-hybrid), ARL6IP1 (Two-hybrid), ITGB3BP (Two-hybrid), ACTL8 (Two-hybrid), COL4A3BP (Affinity Capture-MS), COL4A3BP (Two-hybrid), COL4A3BP (Two-hybrid), RTN3 (Two-hybrid), COL4A3BP (Two-hybrid), ITGB3BP (Two-hybrid), RTN4 (Two-hybrid), COL4A3BP (Co-fractionation), RANBP2 (Co-fractionation), COL4A3BP (Affinity Capture-MS)

ESM2 similar proteins: A0A098DRQ4, A1A4L0, A1CAN8, A1DF15, A1L1C7, A6RJQ7, A7E559, A7KAL4, B2AVN3, C8VDI2, C8VDQ4, I1RKA1, I1S4N7, O60749, O95219, P0C220, P83094, Q0WQF4, Q2TBW7, Q2U7R4, Q2UB56, Q4IR87, Q4WCV3, Q4WUE5, Q4WZF1, Q524W4, Q5AZC9, Q5R4C2, Q5R6M6, Q5R9A9, Q6NRZ4, Q6P3Q6, Q6PCS4, Q6VVX2, Q7SB54, Q7SB97, Q8J2R3, Q8K3H0, Q8VWF1, Q91VH2

Diamond homologs: A0A2Z4HQ03, A2A8Z1, B9EJ86, O43021, O74178, O80866, P0C199, P35844, P38755, Q02201, Q0IJ05, Q54NM4, Q5M7Y0, Q5R6M6, Q5R9W4, Q6NRZ4, Q6P3Q6, Q6VVX2, Q86KG4, Q8BX94, Q8CI95, Q96SU4, Q9BXB4, Q9BXB5, Q9BZF1, Q9EQG9, Q9ER64, Q9GKI7, Q9H0X9, Q9H1P3, Q9UUA1, Q9UW21, Q9UW25, Q9Y5P4, S4R1M9, A0A223HDI2, A2BG43, B0BLT4, B0BNM9, B0YN54

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PRKD1	down-regulates	CERT1	phosphorylation
CSNK1G2	down-regulates	CERT1	phosphorylation
CERT1	“up-regulates quantity”	ceramide	relocalization
PPM1L	“up-regulates activity”	CERT1	dephosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	9
Uncertain significance	157
Likely benign	61
Benign	9

Top pathogenic / likely-pathogenic (17)

Variant ID	HGVS	Classification
1202758	NM_001379029.1(CERT1):c.957AGA[1] (p.Glu321del)	Pathogenic
3373137	NM_001379029.1(CERT1):c.740C>T (p.Thr247Ile)	Pathogenic
3387779	CERT1, SER135PRO	Pathogenic
3387780	CERT1, SER138CYS	Pathogenic
3387781	CERT1, THR166ALA	Pathogenic
3387782	CERT1, GLY243ARG	Pathogenic
452039	NM_001379029.1(CERT1):c.394T>C (p.Ser132Pro)	Pathogenic
548566	NM_001379029.1(CERT1):c.-114G>T	Pathogenic
2580916	NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)	Likely pathogenic
2664641	NM_001379029.1(CERT1):c.-226G>A	Likely pathogenic
3376829	NM_001379029.1(CERT1):c.1742C>T (p.Ala581Val)	Likely pathogenic
3775396	NM_001379029.1(CERT1):c.887C>G (p.Thr296Arg)	Likely pathogenic
384775	NM_001379029.1(CERT1):c.170C>A (p.Ser57Tyr)	Likely pathogenic
451094	NM_001379029.1(CERT1):c.475G>A (p.Glu159Lys)	Likely pathogenic
4532002	NM_001379029.1(CERT1):c.191G>T (p.Gly64Val)	Likely pathogenic
977354	NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)	Likely pathogenic
985122	NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe)	Likely pathogenic

SpliceAI

4019 predictions. Top by Δscore:

Variant	Effect	Δscore
5:75356447:AGG:A	donor_loss	1.0000
5:75356449:GTA:G	donor_loss	1.0000
5:75356450:T:G	donor_loss	1.0000
5:75358772:G:T	donor_gain	1.0000
5:75358823:GAGAA:G	donor_gain	1.0000
5:75358824:AGAA:A	donor_gain	1.0000
5:75358825:GAA:G	donor_gain	1.0000
5:75358825:GAAG:G	donor_gain	1.0000
5:75358828:G:GG	donor_gain	1.0000
5:75358839:G:GT	donor_gain	1.0000
5:75359167:TAG:T	acceptor_loss	1.0000
5:75359169:G:A	acceptor_loss	1.0000
5:75359309:AGGTG:A	donor_loss	1.0000
5:75359310:GGTGA:G	donor_loss	1.0000
5:75359311:GTG:G	donor_loss	1.0000
5:75359312:T:A	donor_loss	1.0000
5:75359976:T:TA	acceptor_gain	1.0000
5:75359977:G:A	acceptor_gain	1.0000
5:75359982:CAGA:C	acceptor_loss	1.0000
5:75359983:A:AG	acceptor_gain	1.0000
5:75359983:A:AT	acceptor_loss	1.0000
5:75359983:AGAT:A	acceptor_gain	1.0000
5:75359984:G:GG	acceptor_gain	1.0000
5:75359984:GA:G	acceptor_gain	1.0000
5:75359984:GAT:G	acceptor_gain	1.0000
5:75359984:GATG:G	acceptor_gain	1.0000
5:75359984:GATGC:G	acceptor_gain	1.0000
5:75360136:ACAGG:A	donor_loss	1.0000
5:75360138:AGG:A	donor_loss	1.0000
5:75360140:G:C	donor_loss	1.0000

AlphaMissense

4147 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:75379383:A:T	V613D	1.000
5:75379457:C:A	W588C	1.000
5:75379457:C:G	W588C	1.000
5:75379459:A:G	W588R	1.000
5:75379459:A:T	W588R	1.000
5:75381154:A:C	C555W	1.000
5:75381156:A:G	C555R	1.000
5:75382055:C:G	R504P	1.000
5:75382064:G:T	A501D	1.000
5:75382069:C:A	W499C	1.000
5:75382069:C:G	W499C	1.000
5:75382071:A:G	W499R	1.000
5:75382071:A:T	W499R	1.000
5:75385906:C:A	W471C	1.000
5:75385906:C:G	W471C	1.000
5:75385908:A:G	W471R	1.000
5:75385908:A:T	W471R	1.000
5:75385982:G:T	A446D	1.000
5:75385983:C:G	A446P	1.000
5:75386000:A:T	V440D	1.000
5:75389622:C:A	W418C	1.000
5:75389622:C:G	W418C	1.000
5:75389624:A:G	W418R	1.000
5:75389624:A:T	W418R	1.000
5:75403007:C:G	A328P	1.000
5:75403012:A:T	V326D	1.000
5:75403016:C:G	A325P	1.000
5:75403023:G:C	F322L	1.000
5:75403023:G:T	F322L	1.000
5:75403024:A:G	F322S	1.000

dbSNP variants (sampled 300 via entrez): RS1000009699 (5:75374233 A>C,T), RS1000034005 (5:75506520 T>C), RS1000045289 (5:75448778 C>A,T), RS1000055722 (5:75406417 G>A), RS1000062934 (5:75503308 T>A,C), RS1000185452 (5:75412438 A>G), RS1000194111 (5:75454848 T>C), RS1000196063 (5:75413172 T>C), RS1000196527 (5:75495549 C>A), RS1000227566 (5:75495315 G>A,C), RS1000243151 (5:75371063 G>A), RS1000253496 (5:75387067 C>T), RS1000262057 (5:75503668 C>T), RS1000306461 (5:75460292 G>A,C), RS1000315775 (5:75425684 G>T)

Disease associations

OMIM: gene MIM:604677 | disease phenotypes: MIM:616351

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, autosomal dominant 34	Definitive	Autosomal dominant

Mondo (3): intellectual disability, autosomal dominant 34 (MONDO:0014599), intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

26 total (27 of 26 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000286	Epicanthus
HP:0000319	Smooth philtrum
HP:0000365	Hearing impairment
HP:0000463	Anteverted nares
HP:0000582	Upslanted palpebral fissure
HP:0000664	Synophrys
HP:0000687	Widely spaced teeth
HP:0000733	Motor stereotypy
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001488	Bilateral ptosis
HP:0001562	Oligohydramnios
HP:0001773	Short foot
HP:0002058	Myopathic facies
HP:0002069	Bilateral tonic-clonic seizure
HP:0002136	Broad-based gait
HP:0002208	Coarse hair
HP:0002212	Curly hair
HP:0002307	Drooling
HP:0003763	Bruxism
HP:0004691	2-3 toe syndactyly
HP:0005484	Secondary microcephaly
HP:0006610	Wide intermamillary distance
HP:0008936	Axial hypotonia
HP:0100704	Cerebral visual impairment
HP:0000252	Microcephaly

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000337_23	Quantitative traits	1.000000e-06
GCST000337_30	Quantitative traits	6.000000e-06
GCST007293_121	Body fat distribution (arm fat ratio)	2.000000e-10
GCST007293_23	Body fat distribution (arm fat ratio)	3.000000e-18
GCST007293_49	Body fat distribution (arm fat ratio)	1.000000e-14
GCST007295_54	Body fat distribution (leg fat ratio)	6.000000e-06
GCST008077_19	LDL cholesterol levels	3.000000e-08
GCST008077_61	LDL cholesterol levels	9.000000e-11
GCST008078_7	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-18
GCST008078_72	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-18
GCST008079_104	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-213
GCST008079_146	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-18
GCST008086_60	LDL cholesterol levels in current drinkers	5.000000e-11
GCST008086_91	LDL cholesterol levels in current drinkers	6.000000e-09
GCST009764_5	Body mass index	3.000000e-08
GCST90002395_673	Mean platelet volume	2.000000e-10
GCST90002402_769	Platelet count	1.000000e-19

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0004341	body fat distribution
EFO:0004329	alcohol drinking
EFO:0004340	body mass index
EFO:0004309	platelet count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3399913 (SINGLE PROTEIN)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.40	EC50	4000	nM	CHEMBL3401792

PubChem BioAssay actives

1 with measured affinity, of 18 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
N-[(2R,4S)-1,4-dihydroxy-4-phenylbutan-2-yl]dodecanamide	1194537: Binding affinity to histidine-tagged human recombinant COL4A3ABP containing CERT START domain pre-incubated for 30 mins before biotinylated ceramide probe addition and measured after 18 hrs post probe addition by TR-FRET binding assay	ec50	4.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	2
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Valproic Acid	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
FR900359	affects phosphorylation	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
brequinar	decreases expression	1
K 7174	increases expression	1
Gefitinib	affects response to substance	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1
Potassium Dichromate	increases expression	1
Selenium	affects cotreatment, increases expression, decreases expression	1
Dronabinol	increases phosphorylation, affects localization, decreases activity	1
Vanadates	increases expression	1
Vitamin E	affects cotreatment, increases expression, decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3405855	Binding	Binding affinity to histidine-tagged human recombinant COL4A3ABP containing CERT START domain pre-incubated for 30 mins before biotinylated ceramide probe addition and measured after 18 hrs post probe addition by TR-FRET binding assay	The CERT antagonist HPA-12: first practical synthesis and individual binding evaluation of the four stereoisomers. — Bioorg Med Chem

Cellosaurus cell lines

12 cell lines: 7 cancer cell line, 3 transformed cell line, 2 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B0VY	CHO/CERT 2.20	Transformed cell line	Female
CVCL_B0VZ	CHO/CERT 2.41	Transformed cell line	Female
CVCL_B2U7	Abcam HEK293T CERT1 KO	Transformed cell line	Female
CVCL_B3SY	HeLa-mCAT#8 TAL-CE#1	Cancer cell line	Female
CVCL_B3SZ	HeLa-mCAT#8 TAL-CE#14	Cancer cell line	Female
CVCL_B3T0	HeLa-mCAT#8 TAL-CE#3	Cancer cell line	Female
CVCL_B3T1	HeLa-mCAT#8 TAL-CERS2#18-CERT#10	Cancer cell line	Female
CVCL_B3T4	HeLa-mCAT#8 TAL-CE#14-UG#2	Cancer cell line	Female
CVCL_GP77	CHO CERT	Spontaneously immortalized cell line	Female
CVCL_L555	LY-A/hCERT	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders