MBOAT7

Summary

MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7, HGNC:15505) is a protein-coding gene on chromosome 19q13.42, encoding Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 (Q96N66). Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) and participates in the rea….

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 79143 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 11
• Clinical variants (ClinVar): 213 total — 13 pathogenic, 12 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes
• MANE Select transcript: NM_024298

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15505
Approved symbol	MBOAT7
Name	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	BB1, hMBOA-7, LPLAT, LPIAT1, LPLAT11
Ensembl gene	ENSG00000125505
Ensembl biotype	protein_coding
OMIM	606048
Entrez	79143

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000245615, ENST00000338624, ENST00000391754, ENST00000414665, ENST00000431666, ENST00000437868, ENST00000449249, ENST00000453320, ENST00000464098, ENST00000474910, ENST00000491216, ENST00000494142, ENST00000495279, ENST00000495968, ENST00000862618, ENST00000862619, ENST00000862620, ENST00000862621, ENST00000962702, ENST00000962703, ENST00000962704

RefSeq mRNA: 4 — MANE Select: NM_024298 NM_001146056, NM_001146082, NM_001146083, NM_024298

CCDS: CCDS12883, CCDS54315, CCDS54316

Canonical transcript exons

ENST00000245615 — 8 exons

Exon	Start	End
ENSE00001357693	54189338	54189580
ENSE00003567038	54183521	54183680
ENSE00003579435	54180773	54181133
ENSE00003633254	54188217	54188346
ENSE00003642975	54173415	54174431
ENSE00003656702	54178765	54178941
ENSE00003663765	54188433	54188511
ENSE00003669616	54187161	54187287

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 99.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 97.9808 / max 2066.4801, expressed in 1827 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182605	75.0167	1826
182603	12.2140	1743
208924	6.3604	1751
182604	1.6004	979
182602	0.9140	342
182599	0.7673	425
182601	0.7171	440
182600	0.3908	177

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	99.02	gold quality
right adrenal gland	UBERON:0001233	98.89	gold quality
right adrenal gland cortex	UBERON:0035827	98.89	gold quality
left adrenal gland	UBERON:0001234	98.60	gold quality
left adrenal gland cortex	UBERON:0035825	98.53	gold quality
superior frontal gyrus	UBERON:0002661	97.79	gold quality
adrenal gland	UBERON:0002369	97.54	gold quality
stromal cell of endometrium	CL:0002255	97.13	gold quality
right frontal lobe	UBERON:0002810	97.04	gold quality
prefrontal cortex	UBERON:0000451	97.02	gold quality
frontal cortex	UBERON:0001870	96.99	gold quality
hypothalamus	UBERON:0001898	96.83	gold quality
granulocyte	CL:0000094	96.79	gold quality
anterior cingulate cortex	UBERON:0009835	96.62	gold quality
mucosa of transverse colon	UBERON:0004991	96.55	gold quality
cerebral cortex	UBERON:0000956	96.43	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.37	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.31	gold quality
right testis	UBERON:0004534	95.87	gold quality
leukocyte	CL:0000738	95.81	gold quality
gall bladder	UBERON:0002110	95.74	gold quality
temporal lobe	UBERON:0001871	95.67	gold quality
monocyte	CL:0000576	95.66	gold quality
amygdala	UBERON:0001876	95.63	gold quality
Ammon’s horn	UBERON:0001954	95.57	gold quality
left testis	UBERON:0004533	95.49	gold quality
telencephalon	UBERON:0001893	95.36	gold quality
nucleus accumbens	UBERON:0001882	95.29	gold quality
primary visual cortex	UBERON:0002436	95.08	gold quality
testis	UBERON:0000473	94.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-10	yes	23.39
E-MTAB-6678	yes	4.69
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting MBOAT7, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-3691-5P	98.62	65.88	552
HSA-MIR-6511B-5P	97.98	65.64	823
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-5189-5P	97.72	66.96	1814
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-4433B-3P	97.22	63.62	663

Literature-anchored findings (GeneRIF, showing 40)

• LENG4 is located in the leukocyte receptor cluster on chromosome 19. (PMID:10941842)
• describes the cloning of human MBOAT7 (PMID:18094042)
• MBOAT5 and MBOAT7 in arachidonate recycling, thus regulating free arachidonic acid levels and leukotriene synthesis in neutrophils (PMID:18772128)
• reviews members of the MBOAT family (PMID:18931347)
• ssSPTa is identified as an LPIAT1-interacting protein. (PMID:23510452)
• Variants in the MBOAT7 gene is associated with alcohol-related cirrhosis. (PMID:26482880)
• Report an association between the MBOAT7 rs641738 variant and the development and severity of NAFLD in individuals of European descent. (PMID:26850495)
• Children carrying the T allele of the MBOAT7 polymorphism had higher plasma alanine aminotransferase than the noncarriers; children with the MBOAT7, PNPLA3, and TM6SF2 variants had the highest plasma ALT (PMID:27411039)
• identification of six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1); subjects presented with intellectual disability frequently accompanied by epilepsy and autistic features (PMID:27616480)
• rs641738 polymorphism is a novel risk variant for liver inflammation in hepatitis C, and thereby for liver fibrosis (PMID:27630043)
• Fibrosis stages were affected by the PNPLA3 (P = 0.042) and MBOAT7 (P = 0.021) but not by the TM6SF2 polymorphism (P > 0.05). The PNPLA3, TM6SF2, and MBOAT7 variants are associated with increased liver injury. The TM6SF2 variant seems to modulate predominantly hepatic fat accumulation, whereas the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk of both increased steatosis and fibrosis (PMID:27836992)
• MBOAT7 polymorphism contributes to hepatic inflammation and liver fibrosis in patients with chronic hepatitis B. (PMID:28109005)
• the MBOAT7 rs641738 T allele is associated with reduced MBOAT7 expression and may predispose to HCC in European individuals without cirrhosis, suggesting it should be evaluated in future prospective studies aimed at stratifying NAFLD-HCC risk. (PMID:28674415)
• Variants with moderate effect size in MBOAT7 have been shown to have a significant contribution to the Non-alcoholic fatty liver disease development. (PMID:29122391)
• The variant MBOAT7 rs641738 genotype is not associated with hepatic steatosis and serum levels of CK-18 fragment in obese Taiwanese children. (PMID:29314568)
• The rs626283 variant in the MBOAT7 gene is associated with NAFLD and may affect glucose metabolism by modulating intra-hepatic fat content in Caucasian obese children and adolescents. (PMID:29485130)
• Carriage of TM6SF2 rs58542926 is an additional risk factor for the development of hepatocellular carcinoma (HCC) in people with alcohol-related cirrhosis. Carriage of both PNPLA3 rs738409 and TM6SF2 rs58542926 accounts for half of the attributable risk for HCC in this population. The risk associated with carriage of MBOAT7 rs641738 was not significant. (PMID:29535416)
• This study explored the role of rs641738 C/T located in TMC4 exon 1 (p.Gly17Glu) and 500 bases- downstream of MBOAT7 gene (TMC4/MBOAT7), in the genetic risk for developing nonalcoholic fatty liver disease (NAFLD). No evidence was found of association between rs641738 and either NAFLD. Low levels of MBOAT7 protein expression were found in the liver of patients with NAFLD, which were unrelated to the rs641738 genotypes. (PMID:29572551)
• The MBOAT7 rs641738 variant influences alanine transaminase levels and exerts an additive effect with patatin-like phospholipase domain-containing 3 and transmembrane 6 superfamily member2 variants on nonalcoholic fatty liver disease risk in obese children. (PMID:29601441)
• the variant MBOAT7 rs641738 genotype is not associated with spontaneous clearance of HBV and HCV infections or with the progression of liver disease in chronic hepatitis B or C in a genetic context of Mediterranean patients (PMID:30116012)
• Data imply an upregulated expression of PTGER4 and PSCA as well as a downregulated expression of MBOAT7 in gastric tissue as risk-conferring gastric cancer patho-mechanisms. (PMID:30191681)
• Genome-wide genotyping and exome sequencing identified five different types of homozygous mutations in the MBOAT7 gene in all seven families which are p.Arg87*, p.Leu227ProfsX65, p.Gln376Lys, p.Trp426*, and chr19:54.666.173-54.677.766/11594 bp del. (PMID:30701556)
• Meta-analysis of the association between MBOAT7 rs641738, TM6SF2 rs58542926 and nonalcoholic fatty liver disease susceptibility. (PMID:30824369)
• Results show that MBOAT7 rs641738 is not linked to hepatic fibrosis, alcohol or hepatitis C virus induced liver cirrhosis in an Eastern European population. (PMID:30875804)
• These data are compatible with the role of MBOAT7 in remodeling the acyl chain composition of endomembranes. (PMID:30959108)
• Association Between a Polymorphism in MBOAT7 and Chronic Kidney Disease in Patients With Biopsy-Confirmed Nonalcoholic Fatty Liver Disease. (PMID:31546054)
• Metabolic syndrome but not genetic polymorphisms known to induce NAFLD predicts increased total mortality in subjects with NAFLD (OPERA study). (PMID:31851849)
• identified a homozygous frameshift variant (NM_024298.3:c.758_778del; p.Glu253_Ala259del) in membrane-bound O-acyltransferase family member 7 (MBOAT7) as the likely cause of disease (PMID:31852446)
• The MBOAT7 rs641738 variant is associated with an improved outcome in primary sclerosing cholangitis. (PMID:31928970)
• MBOAT7-driven phosphatidylinositol remodeling promotes the progression of clear cell renal carcinoma. (PMID:32180553)
• Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan. (PMID:32443539)
• Genetic predisposition in metabolic-dysfunction-associated fatty liver disease and cardiovascular outcomes-Systematic review. (PMID:32589269)
• Loss of hepatic Mboat7 leads to liver fibrosis. (PMID:32591434)
• MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD. (PMID:32629394)
• Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability. (PMID:32645526)
• A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. (PMID:32744787)
• LPIAT1/MBOAT7 contains a catalytic dyad transferring polyunsaturated fatty acids to lysophosphatidylinositol. (PMID:33513444)
• Association between MBOAT7 rs641738 polymorphism and non-alcoholic fatty liver in overweight or obese children. (PMID:33810963)
• TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models. (PMID:34823063)
• Expression of Membrane Bound O-Acyltransferase Domain Containing 7 after Myocardial Infarction and its Role in Lipid Metabolism in vitro. (PMID:35582424)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mboat7	ENSDARG00000033436
mus_musculus	Mboat7	ENSMUSG00000035596
rattus_norvegicus	Mboat7	ENSRNOG00000052600
drosophila_melanogaster	frj	FBGN0031815
caenorhabditis_elegans		WBGENE00008806

Paralogs (5): PORCN (ENSG00000102312), LPCAT3 (ENSG00000111684), MBOAT2 (ENSG00000143797), MBOAT1 (ENSG00000172197), MBOAT4 (ENSG00000177669)

Protein

Protein identifiers

Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 — Q96N66 (reviewed: Q96N66)

Alternative names: 1-acylglycerophosphatidylinositol O-acyltransferase, Bladder and breast carcinoma-overexpressed gene 1 protein, Leukocyte receptor cluster member 4, Lysophosphatidylinositol acyltransferase, Lysophospholipid acyltransferase 7, Membrane-bound O-acyltransferase domain-containing protein 7

All UniProt accessions (6): Q96N66, A9C4B8, C9J4E9, F8WD95, H7C2M4, M0R1Z5

UniProt curated annotations — full annotation on UniProt →

Function. Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Prefers arachidonoyl-CoA as the acyl donor, thus contributing to the regulation of free levels arachidonic acid in cell. In liver, participates in the regulation of triglyceride metabolism through the phosphatidylinositol acyl-chain remodeling regulation.

Subunit / interactions. Interacts with SPTSSA; the interaction facilitates MBOAT7 location to mitochondria-associated membranes (MAMs).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium.

Disease relevance. Intellectual developmental disorder, autosomal recessive 57 (MRT57) [MIM:617188] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activity is inhibited by thimerosal.

Pathway. Lipid metabolism; phospholipid metabolism.

Similarity. Belongs to the membrane-bound acyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96N66-1	1	yes
Q96N66-2	2
Q96N66-3	3

RefSeq proteins (4): NP_001139528, NP_001139554, NP_001139555, NP_077274* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004299	MBOAT_fam	Family
IPR049941	LPLAT_7/PORCN-like	Family

Pfam: PF03062

Enzyme classification (BRENDA):

• EC 2.3.1.B46 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

Catalyzed reactions (Rhea), 4 shown:

• a 1-acyl-sn-glycero-3-phospho-(1D-myo-inositol) + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + CoA (RHEA:33195)
• (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphocholine = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + CoA (RHEA:35999)
• 1-octadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + CoA (RHEA:36835)
• a 1-acyl-sn-glycero-3-phospho-(1D-myo-inositol) + (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA = a 1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + CoA (RHEA:37015)

UniProt features (23 total): topological domain 7, transmembrane region 6, sequence variant 3, splice variant 2, sequence conflict 2, chain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8ERC	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96N66-F1	92.26	0.87

Functional residue map

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

Glycosylation sites (1): 321

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1482922	Acyl chain remodelling of PI
R-HSA-1430728	Metabolism
R-HSA-1483206	Glycerophospholipid biosynthesis
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 223 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_LIPID_MODIFICATION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_LAYER_FORMATION_IN_CEREBRAL_CORTEX, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_FOREBRAIN_DEVELOPMENT, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, PATIL_LIVER_CANCER

GO Biological Process (11): phosphatidylinositol biosynthetic process (GO:0006661), ventricular system development (GO:0021591), layer formation in cerebral cortex (GO:0021819), lipid modification (GO:0030258), phosphatidylinositol acyl-chain remodeling (GO:0036149), phosphatidylcholine acyl-chain remodeling (GO:0036151), regulation of triglyceride metabolic process (GO:0090207), lipid metabolic process (GO:0006629), phospholipid metabolic process (GO:0006644), phospholipid biosynthetic process (GO:0008654), phosphatidylinositol metabolic process (GO:0046488)

GO Molecular Function (7): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), obsolete O-acyltransferase activity (GO:0008374), 2-acylglycerol-3-phosphate O-acyltransferase activity (GO:0047144), lysophospholipid acyltransferase activity (GO:0071617), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), mitochondria-associated endoplasmic reticulum membrane contact site (GO:0044233)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylinositol metabolic process	2
lipid metabolic process	2
lysophosphatidic acid acyltransferase activity	2
biosynthetic process	1
brain development	1
system development	1
cerebral cortex radial glia-guided migration	1
anatomical structure formation involved in morphogenesis	1
phosphatidylcholine metabolic process	1
triglyceride metabolic process	1
regulation of lipid metabolic process	1
primary metabolic process	1
organophosphate metabolic process	1
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
phosphorus metabolic process	1
acylglycerol O-acyltransferase activity	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
catalytic activity	1
transferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
organelle membrane contact site	1

Protein interactions and networks

STRING

812 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MBOAT7	TM6SF2	Q9BZW4	909
MBOAT7	PNPLA3	Q9NST1	887
MBOAT7	HSD17B13	Q7Z5P4	874
MBOAT7	TMC4	Q7Z404	815
MBOAT7	LYPLAL1	Q5VWZ2	620
MBOAT7	LENG1	Q96BZ8	597
MBOAT7	GCKR	Q14397	596
MBOAT7	PPP1R3B	Q86XI6	582
MBOAT7	C6orf141	Q5SZD1	522
MBOAT7	MTARC1	Q5VT66	507
MBOAT7	TERT	O14746	451
MBOAT7	GPT	P24298	447
MBOAT7	CNOT3	O75175	443
MBOAT7	LPCAT4	Q643R3	440
MBOAT7	IFNG	P01579	431

IntAct

134 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ADCY9	NEMP1	psi-mi:“MI:0914”(association)	0.640
SLC7A1	TMEM223	psi-mi:“MI:0914”(association)	0.530
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
TM2D2	TMEM97	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM63A	AP3D1	psi-mi:“MI:0914”(association)	0.530
STOM	EI24	psi-mi:“MI:0914”(association)	0.510
STING1	MBOAT7	psi-mi:“MI:0915”(physical association)	0.500
MBOAT7	Unc93b1	psi-mi:“MI:0915”(physical association)	0.500
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
C1orf162	MBOAT7	psi-mi:“MI:0915”(physical association)	0.400
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
MBOAT7	ADRA1A	psi-mi:“MI:0915”(physical association)	0.370
MBOAT7	BDKRB1	psi-mi:“MI:0915”(physical association)	0.370
MBOAT7	SHANK3	psi-mi:“MI:0915”(physical association)	0.370
MAPK6	MBOAT7	psi-mi:“MI:0915”(physical association)	0.370
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Rmdn3	DERL1	psi-mi:“MI:0914”(association)	0.350
RAB7A		psi-mi:“MI:0914”(association)	0.350
PKN2	TMUB1	psi-mi:“MI:0914”(association)	0.350
Spast		psi-mi:“MI:0914”(association)	0.350
Tmed2		psi-mi:“MI:0914”(association)	0.350

BioGRID (271): MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Proximity Label-MS), MBOAT7 (Proximity Label-MS), MBOAT7 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS)

ESM2 similar proteins: A6NGC4, A6NKX4, A6NM10, F1NZP5, O96011, P0C242, P27544, P27545, Q0VCY6, Q2TBI8, Q3SYU3, Q4V8E5, Q5F2F2, Q5JZQ7, Q5RFI0, Q5U2T1, Q5U419, Q6AYM9, Q6GQT6, Q6PIS1, Q6TCG5, Q6UXD7, Q6UXT9, Q71RH2, Q7TNV1, Q7Z403, Q80ZE4, Q863Y8, Q86WI3, Q8BMT9, Q8CHK3, Q8IU68, Q8IXF9, Q8N9H8, Q8TBR7, Q8VC26, Q8WUG5, Q96N66, Q99640, Q99JT6

Diamond homologs: Q0VCY6, Q5U4T9, Q7SZQ0, Q8CHK3, Q96N66, Q9VMD5, A8WXS4, Q19468

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
MBOAT7	“down-regulates quantity”	acyl-CoA	“chemical modification”
MBOAT7	“down-regulates quantity”	2-acyl-sn-glycero-3-phospho-D-myo-inositol	“chemical modification”
MBOAT7	“up-regulates quantity”	“coenzyme A(4-)”	“chemical modification”
MBOAT7	“up-regulates quantity”	1-phosphatidyl-1D-myo-inositol	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 172 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
RHOQ GTPase cycle	6	10.7×	8e-03
Class A/1 (Rhodopsin-like receptors)	8	5.8×	8e-03
SLC-mediated transmembrane transport	9	5.2×	8e-03
Neutrophil degranulation	15	3.4×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
cholesterol transport	5	26.6×	5e-04
positive regulation of cytosolic calcium ion concentration	10	8.5×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	12
Uncertain significance	135
Likely benign	28
Benign	1

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
1879456	NM_024298.5(MBOAT7):c.849dup (p.Ser284fs)	Pathogenic
2307148	NM_024298.5(MBOAT7):c.676_679dup (p.Leu227fs)	Pathogenic
268112	NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)	Pathogenic
268113	NM_024298.5(MBOAT7):c.423del (p.Leu142fs)	Pathogenic
268114	NM_024298.5(MBOAT7):c.854+1G>C	Pathogenic
268115	NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs)	Pathogenic
3026780	NM_024298.5(MBOAT7):c.967del (p.Thr323fs)	Pathogenic
3359225	NM_024298.5(MBOAT7):c.724C>T (p.Arg242Cys)	Pathogenic
3381384	NM_024298.5(MBOAT7):c.680_690del (p.Leu227fs)	Pathogenic
3775550	NM_024298.5(MBOAT7):c.-3-2del	Pathogenic
812079	NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)	Pathogenic
812082	NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	Pathogenic
817917	NM_024298.5(MBOAT7):c.757_769del (p.Glu253fs)	Pathogenic
1324698	NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)	Likely pathogenic
1328055	NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)	Likely pathogenic
1333419	NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)	Likely pathogenic
1698185	NM_024298.5(MBOAT7):c.1116C>A (p.Cys372Ter)	Likely pathogenic
2583119	NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)	Likely pathogenic
268111	NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)	Likely pathogenic
3053791	NM_024298.5(MBOAT7):c.655_736dup (p.Tyr246Ter)	Likely pathogenic
3338607	NM_024298.5(MBOAT7):c.493+1G>T	Likely pathogenic
3359224	NM_024298.5(MBOAT7):c.1148_1166dup (p.Gly390fs)	Likely pathogenic
4293725	NM_024298.5(MBOAT7):c.956_971del (p.Tyr319fs)	Likely pathogenic
986127	NM_024298.5(MBOAT7):c.855-2A>G	Likely pathogenic
996590	NM_024298.5(MBOAT7):c.251del (p.Leu84fs)	Likely pathogenic

SpliceAI

1734 predictions. Top by Δscore:

Variant	Effect	Δscore
19:54178759:ACTC:A	donor_loss	1.0000
19:54178761:TCACC:T	donor_loss	1.0000
19:54178762:CACCG:C	donor_loss	1.0000
19:54178763:A:AC	donor_gain	1.0000
19:54178763:ACC:A	donor_loss	1.0000
19:54178764:C:CC	donor_gain	1.0000
19:54178764:CCG:C	donor_gain	1.0000
19:54178942:C:CC	acceptor_gain	1.0000
19:54181129:CGGGC:C	acceptor_gain	1.0000
19:54181130:GGGCC:G	acceptor_loss	1.0000
19:54181132:GCC:G	acceptor_loss	1.0000
19:54181134:C:CC	acceptor_gain	1.0000
19:54181134:CTGT:C	acceptor_loss	1.0000
19:54181135:T:C	acceptor_loss	1.0000
19:54183518:CACC:C	donor_loss	1.0000
19:54183519:A:AC	donor_gain	1.0000
19:54183519:AC:A	donor_gain	1.0000
19:54183520:C:CT	donor_gain	1.0000
19:54183520:CC:C	donor_gain	1.0000
19:54183520:CCT:C	donor_gain	1.0000
19:54183520:CCTG:C	donor_gain	1.0000
19:54183520:CCTGT:C	donor_gain	1.0000
19:54183676:ACCAG:A	acceptor_gain	1.0000
19:54183677:CCAG:C	acceptor_gain	1.0000
19:54183677:CCAGC:C	acceptor_gain	1.0000
19:54183678:CAGC:C	acceptor_gain	1.0000
19:54183679:AG:A	acceptor_gain	1.0000
19:54183680:GC:G	acceptor_loss	1.0000
19:54183681:C:CC	acceptor_gain	1.0000
19:54183682:T:C	acceptor_loss	1.0000

AlphaMissense

3007 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:54174221:G:C	F414L	1.000
19:54174221:G:T	F414L	1.000
19:54174223:A:G	F414L	1.000
19:54174397:G:C	H356D	1.000
19:54178833:G:C	N321K	1.000
19:54178833:G:T	N321K	1.000
19:54178834:T:A	N321I	1.000
19:54178836:C:A	W320C	1.000
19:54178836:C:G	W320C	1.000
19:54178838:A:G	W320R	1.000
19:54178838:A:T	W320R	1.000
19:54180882:A:G	W249R	1.000
19:54180882:A:T	W249R	1.000
19:54174222:A:C	F414C	0.999
19:54174222:A:G	F414S	0.999
19:54174223:A:T	F414I	0.999
19:54174226:C:G	G413R	0.999
19:54174230:G:C	C411W	0.999
19:54174368:G:C	S365R	0.999
19:54174368:G:T	S365R	0.999
19:54174370:T:G	S365R	0.999
19:54174393:C:A	G357V	0.999
19:54174394:C:G	G357R	0.999
19:54174395:G:C	H356Q	0.999
19:54174395:G:T	H356Q	0.999
19:54174397:G:T	H356N	0.999
19:54174398:C:A	W355C	0.999
19:54174398:C:G	W355C	0.999
19:54174400:A:G	W355R	0.999
19:54174400:A:T	W355R	0.999

dbSNP variants (sampled 300 via entrez): RS1000292410 (19:54173303 G>A,C,T), RS1000304241 (19:54185871 T>C), RS1000342777 (19:54190173 T>C), RS1000455614 (19:54175583 T>C), RS1000600559 (19:54178572 C>T), RS1000624135 (19:54189349 G>A,C,T), RS1000636243 (19:54175396 CAGG>C), RS1000646410 (19:54184683 A>T), RS1000655461 (19:54189518 G>A), RS1000830558 (19:54188144 A>C), RS1000946240 (19:54187908 G>C), RS1001083684 (19:54173468 C>A), RS1001175615 (19:54176069 A>C), RS1001306327 (19:54173653 A>C), RS1001313461 (19:54180406 G>T)

Disease associations

OMIM: gene MIM:606048 | disease phenotypes: MIM:617188

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, autosomal recessive 57	Strong	Autosomal recessive
autosomal recessive non-syndromic intellectual disability	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AR

Mondo (3): intellectual disability (MONDO:0001071), intellectual disability, autosomal recessive 57 (MONDO:0014962), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

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

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000729	Autistic behavior
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001290	Generalized hypotonia
HP:0001344	Absent speech
HP:0001347	Hyperreflexia
HP:0002123	Generalized myoclonic seizure
HP:0002126	Polymicrogyria
HP:0002197	Generalized-onset seizure
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002540	Inability to walk
HP:0003593	Infantile onset
HP:0007359	Focal-onset seizure
HP:0008936	Axial hypotonia
HP:0031936	Delayed ability to walk

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001762_60	Obesity-related traits	3.000000e-08
GCST003153_3	Cirrhosis (alcohol related)	1.000000e-09
GCST008931_4	Phosphatidylinositol levels	1.000000e-09
GCST008931_6	Phosphatidylinositol levels	6.000000e-16
GCST008931_8	Phosphatidylinositol levels	1.000000e-27
GCST011639_13	Cirrhosis (alcohol related)	7.000000e-07
GCST012020_548	Serum metabolite levels	1.000000e-13
GCST012020_549	Serum metabolite levels	6.000000e-13
GCST012232_36	Lipoprotein (a) levels	7.000000e-10
GCST90011900_167	Serum alkaline phosphatase levels	2.000000e-73
GCST90013406_40	Liver enzyme levels (alkaline phosphatase)	8.000000e-137

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006925	lipoprotein A measurement
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066408 (SINGLE PROTEIN)

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs626283	MBOAT7, TMC4		0.00	0
rs641738	MBOAT7, TMC4		0.00	0

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.70	Kd	202	nM	CHEMBL5653589
6.70	ED50	202	nM	CHEMBL5653589
5.47	Kd	3401	nM	CHEMBL3752910
5.47	ED50	3401	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148728: Binding affinity to human MBOAT7 incubated for 45 mins by Kinobead based pull down assay	kd	0.2020	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148728: Binding affinity to human MBOAT7 incubated for 45 mins by Kinobead based pull down assay	kd	3.4005	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
sodium arsenite	affects cotreatment, increases expression, increases abundance	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Tretinoin	affects cotreatment, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	increases expression	1
diethyl maleate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression, increases expression	1
bisphenol S	increases expression	1
MT19c compound	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
bisphenol AF	increases 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
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Benztropine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651770	Binding	Binding affinity to human MBOAT7 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

197 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