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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MBOAT7
membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Chromosome 19 Β· 19q13.42
NCBI Gene: 79143Ensembl: ENSG00000125505.18HGNC: HGNC:15505UniProt: Q96N66
131PubMed Papers
1Diseases
0Drugs
26Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of triglyceride metabolic processmitochondria-associated endoplasmic reticulum membrane contact siteO-acyltransferase activityprotein bindingIntellectual developmental disorder, autosomal recessive 57
✦AI Summary

MBOAT7 is a membrane-anchored acyltransferase that catalyzes the reacylation of lysophosphatidylinositol with arachidonoyl-CoA to regenerate phosphatidylinositol, a key step in phospholipid remodeling (Lands cycle) 1. This enzyme regulates free arachidonic acid levels and participates in hepatic triglyceride metabolism through phosphatidylinositol acyl-chain remodeling 1. MBOAT7 genetic variants, particularly rs641738 (C>T), reduce gene expression and are robustly associated with the entire spectrum of fatty liver disease, from simple steatosis to hepatocellular carcinoma 23. Loss-of-function variants increase susceptibility to nonalcoholic fatty liver disease (NAFLD/MAFLD), alcohol-associated liver disease, viral hepatitis-related fibrosis, and hepatocellular carcinoma risk, with individuals in the top 1% genetic risk showing 6-fold increased HCC risk 24. MBOAT7 also regulates cellular ferroptosis through phosphatidylinositol remodeling with polyunsaturated fatty acids 5. Complete loss of function causes severe neurodevelopmental disorders and neurological manifestations, underscoring phosphatidylinositol remodeling's importance for human health 1. Polygenic risk scores incorporating MBOAT7 variants improve hepatocellular carcinoma prediction independent of fibrosis stage 6.

Sources cited
1
MBOAT7 catalyzes phosphatidylinositol remodeling with polyunsaturated fatty acids and is associated with fatty liver disease and extrahepatic conditions
PMID: 37605540
2
MBOAT7 variants identified in GWAS meta-analysis of NAFLD; individuals in top 1% genetic risk have 6-fold increased HCC risk
PMID: 37709864
3
MBOAT7 rs641738 variant reduces expression and confers increased susceptibility to NAFLD, alcohol-associated liver disease, and liver fibrosis
PMID: 35636492
4
MBOAT7 genetic polymorphisms are risk factors for NAFLD-associated hepatocellular carcinoma
PMID: 34453963
5
MBOAT7 promotes polyunsaturated phosphatidylinositol remodeling and ferroptosis susceptibility
PMID: 37691145
6
MBOAT7 variants in polygenic risk scores predict hepatocellular carcinoma independently of fibrosis
PMID: 33248170
Disease Associationsβ“˜1
Intellectual developmental disorder, autosomal recessive 57UniProt
Pathogenic Variants26
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)Pathogenic
Intellectual disability, autosomal recessive 57|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 253
NM_024298.5(MBOAT7):c.423del (p.Leu142fs)Pathogenic
Intellectual disability, autosomal recessive 57|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 142
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)Pathogenic
Intellectual disability, autosomal recessive 57|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 354
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)Pathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜…β˜†β˜†2023β†’ Residue 231
NM_024298.5(MBOAT7):c.956_971del (p.Tyr319fs)Likely pathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜†β˜†β˜†2025β†’ Residue 319
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)Pathogenic
Intellectual disability, autosomal recessive 57|Neurodevelopmental abnormality
β˜…β˜†β˜†β˜†2024β†’ Residue 379
NM_024298.5(MBOAT7):c.680_690del (p.Leu227fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 227
NM_024298.5(MBOAT7):c.493+1G>TLikely pathogenic
Intellectual disability, autosomal recessive 57|MBOAT7-related disorder
β˜…β˜†β˜†β˜†2024
NM_024298.5(MBOAT7):c.967del (p.Thr323fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 323
NM_024298.5(MBOAT7):c.-3-2delPathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜†β˜†β˜†2023
NM_024298.5(MBOAT7):c.849dup (p.Ser284fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 284
NM_024298.5(MBOAT7):c.676_679dup (p.Leu227fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 227
NM_024298.5(MBOAT7):c.1116C>A (p.Cys372Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 372
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)Likely pathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜†β˜†β˜†2022β†’ Residue 271
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)Likely pathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜†β˜†β˜†2021β†’ Residue 67
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)Likely pathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜†β˜†β˜†2020β†’ Residue 43
NM_024298.5(MBOAT7):c.757_769del (p.Glu253fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 253
NM_024298.5(MBOAT7):c.855-2A>GLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2018
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)Likely pathogenic
Intellectual disability, autosomal recessive 57
β˜…β˜†β˜†β˜†β†’ Residue 430
NM_024298.5(MBOAT7):c.1148_1166dup (p.Gly390fs)Likely pathogenic
Intellectual disability, autosomal recessive 57
β˜†β˜†β˜†β˜†2024β†’ Residue 390
View on ClinVar β†—
Related Genes
LCLAT1Protein interaction94%AGPAT3Protein interaction93%AGPAT4Protein interaction92%TMC4Protein interaction90%PNPLA3Protein interaction89%TM6SF2Protein interaction69%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
MBOAT7LCLAT1AGPAT3AGPAT4TMC4PNPLA3TM6SF2
PROTEIN STRUCTURE
Preparing viewer…
PDB8ERC Β· 3.70 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.73–1.23]
RankingsWhere MBOAT7 stands among ~20K protein-coding genes
  • #3,565of 20,598
    Most Researched131 Β· top quartile
  • #1,938of 5,498
    Most Pathogenic Variants26
  • #12,941of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedMBOAT7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.
PMID: 37709864
Nat Genet Β· 2023
1.00
2
Epidemiology and risk-stratification of NAFLD-associated HCC.
PMID: 34453963
J Hepatol Β· 2021
0.90
3
MBOAT7 in liver and extrahepatic diseases.
PMID: 37605540
Liver Int Β· 2023
0.80
4
Positive selection of somatically mutated clones identifies adaptive pathways in metabolic liver disease.
PMID: 37040760
Cell Β· 2023
0.70
5
MMD collaborates with ACSL4 and MBOAT7 to promote polyunsaturated phosphatidylinositol remodeling and susceptibility to ferroptosis.
PMID: 37691145
Cell Rep Β· 2023
0.60