MBOAT7

Chr 19

membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

Also known as: BB1, LENG4, LPIAT, LPIAT1, LPLAT, LPLAT11, LRC4, MBOA7

NCBI Gene: 79143ENSG00000125505UniProt: Q96N66

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. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 57

Clinical highlights

Gene-disease validity (ClinGen)
complex neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
5
Active trials
54
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.113
Z-score 2.85
OE 0.28 (0.14–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.44Z-score
OE missense 0.93 (0.84–1.02)
274 obs / 295.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.14–0.58)
0≤0.351.4
Missense OE?0.93 (0.84–1.02)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 5 / 18.1Missense obs/exp: 274 / 295.3Syn Z: -1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients