MBOAT7

Chr 19AR

membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

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

NCBI Gene: 79143 ENSG00000125505 UniProt: Q96N66 OMIM: 606048

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).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.581 OMIM phenotype

Clinical Summary— MBOAT7

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Gene-Disease Validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.

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ClinVar Variants

28 unique Pathogenic / Likely Pathogenic· 135 VUS of 215 total submissions

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Clinical Trials

5 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

strongMBOAT7-related intellectual disability accompanied by epilepsy and autistic featuresLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.6743th %ile

GOF

0.76top 25%

LOF

0.2776th %ile

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

215 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13

Likely Pathogenic15

VUS135

Likely Benign29

Benign1

Conflicting3

Pathogenic

Likely Pathogenic

135

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	11	2	0	0	13
Likely Pathogenic	14	1	0	0	15
VUS	4	127	3	1	135
Likely Benign	0	7	4	18	29
Benign	0	0	0	1	1
Conflicting	—				3
Total	29	137	7	20	196

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

16 pathogenic / likely-pathogenic (of 24) ClinVar copy-number / structural variants overlap MBOAT7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →