MBOAT7 encodes membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 (472 aa). Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.

Intellectual disability, autosomal recessive 57 is associated with mutations in the MBOAT7 gene on chromosome 19.

The MBOAT7 protein participates in 1-acyl LPI is acylated to PI by MBOAT7 and 2-acyl LPI is acylated to PI by MBOAT7 pathways.

MBOAT7 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for MBOAT7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 very common features, 4 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 57.

5 publications have been identified in PubMed for intellectual disability, autosomal recessive 57. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

• Panganiban J (2025). [PMID: 40230708](https://pubmed.ncbi.nlm.nih.gov/40230708/). *Obes Pillars*. [Review / Meta-Analysis]

• Yamaguchi Y (2025). [PMID: 39617394](https://pubmed.ncbi.nlm.nih.gov/39617394/). *Congenit Anom (Kyoto)*. [Basic Science / Preclinical]

• Shah AWA (2025). [PMID: 40813497](https://pubmed.ncbi.nlm.nih.gov/40813497/). *Mol Biol Rep*. [Basic Science / Preclinical]

• Furukawa S (2025). [PMID: 39610113](https://pubmed.ncbi.nlm.nih.gov/39610113/). *Psychiatry Clin Neurosci*. [Epidemiology / Natural History]

• Kousa A (2024). [PMID: 38694353](https://pubmed.ncbi.nlm.nih.gov/38694353/). *Ann Med Surg (Lond)*. [Case Report / Case Series]