MBOAT7

Chr 19AR

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]

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 57MIM #617188
AR
216
ClinVar variants
42
Pathogenic / LP
0.11
pLI score
4
Active trials
Clinical Summary— MBOAT7
🧬
Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
📋
ClinVar Variants
42 Pathogenic / Likely Pathogenic· 142 VUS of 216 total submissions
💊
Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.44Z-score
OE missense 0.93 (0.84–1.02)
274 obs / 295.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.28 (0.14–0.58)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.93 (0.84–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.17
0≤1.21.6
LoF obs/exp: 5 / 18.1Missense obs/exp: 274 / 295.3Syn Z: -1.51

ClinVar Variant Classifications

216 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic13
VUS142
Likely Benign28
Benign1
Conflicting3
29
Pathogenic
13
Likely Pathogenic
142
VUS
28
Likely Benign
1
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
10
1
18
0
29
Likely Pathogenic
8
2
3
0
13
VUS
4
124
13
1
142
Likely Benign
0
7
4
17
28
Benign
0
0
0
1
1
Conflicting
—3
Total221343819216

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

View 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.

Gene2Phenotype Curations

MBOAT7-related intellectual disability accompanied by epilepsy and autistic features

strong
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Intellectual developmental disorder, autosomal recessive 57

MIM #617188

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Epidemiology and risk-stratification of NAFLD-associated HCC.
Ioannou GN·J Hepatol
2021Review
Genetics and epigenetics of NAFLD and NASH: Clinical impact.
Eslam M et al.·J Hepatol
2018Review
Membrane-bound O-acyltransferase 7 (MBOAT7)-driven phosphatidylinositol remodeling in advanced liver disease.
Varadharajan V et al.·J Lipid Res
2022Review
rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis.
Teo K et al.·J Hepatol
2021Meta-analysis
Membrane-bound O-acyltransferase 7 (MBOAT7) shapes lysosomal lipid homeostasis and function to control alcohol-associated liver injury.
Varadharajan V et al.·Elife
2024
MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD.
Meroni M et al.·EBioMedicine
2020Review
Therapeutic opportunities for the treatment of NASH with genetically validated targets.
Lindén D et al.·J Hepatol
2023Review
High inherited risk predicts age-associated increases in fibrosis in patients with MASLD.
Díaz LA et al.·J Hepatol
2025Cohort
Integrating genetic variants into clinical models for hepatocellular carcinoma risk stratification in cirrhosis.
Nahon P et al.·J Hepatol
2023Functional
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.
Ronzoni L et al.·Genes (Basel)
2023Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
LPLAT11/MBOAT7-driven phosphatidylinositol remodeling ensures radial glial cell integrity in developing neocortex.
Ishino Y et al.·iScience
2026🔓 Open AccessFunctional
A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance.
Saba N et al.·Biochem Genet
2025
Impact of genotyping (PTPN2, rs2542151) and (MBOAT7, rs641738) in prediction of fibrosis in Metabolic dysfunction- associated steatotic liver disease' patients.
Abdelsattar S et al.·Front Endocrinol (Lausanne)
2025🔓 Open AccessCohort
Contribution of PNPLA3, GCKR, MBOAT7, NCAN, and TM6SF2 Genetic Variants to Hepatocellular Carcinoma Development in Mexican Patients.
Arreola Cruz A et al.·Int J Mol Sci
2025🔓 Open AccessCohort
Polymorphism's MBOAT7 as Risk and MTARC1 as Protection for Liver Fibrosis in MASLD.
Rocha S et al.·Int J Mol Sci
2025🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

RECRUITING
NCT01238250Simons SearchlightStarted 2010-10
NAFLD

Human Liver ORganoids as a Model to Study the Development of Non-Alcoholic SteatOhepatitis (NASH)

RECRUITING
NCT06856252Phase NAFondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoStarted 2021-07-01
Liver resection to isolate cells
CirrhosisMASLD

DEFINITION OF THE GENOMIC LANDSCAPE OF MASLD

RECRUITING
NCT07249112Phase NAFondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoStarted 2025-09-01
genetic and somatic variants involved in its progression toward advanced fibrosis and hepatocellular carcinoma
NASHHCCGenetic Predisposition

Evaluation of Risk of hEpatocellular Carcinoma

RECRUITING
NCT06523179Phase NAFondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoStarted 2018-01-01
quantify the impact of genetic risk factors

External Resources

Links to major genomics databases and tools