MBOAT7
Chr 19ARmembrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Also known as: BB1, LENG4, LPIAT, LPIAT1, LPLAT, LPLAT11, LRC4, MBOA7
This lysophosphatidylinositol acyltransferase catalyzes the transfer of acyl groups (preferentially arachidonoyl-CoA) to lysophosphatidylinositol during phospholipid remodeling in the Lands cycle, regulating cellular arachidonic acid levels and triglyceride metabolism. Biallelic mutations cause autosomal recessive intellectual developmental disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.581).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MBOAT7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Evaluation of Risk of hEpatocellular Carcinoma
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGDEFINITION OF THE GENOMIC LANDSCAPE OF MASLD
RECRUITINGHuman Liver ORganoids as a Model to Study the Development of Non-Alcoholic SteatOhepatitis (NASH)
RECRUITINGExternal Resources
Links to major genomics databases and tools