AGPAT2

Chr 9

1-acylglycerol-3-phosphate O-acyltransferase 2

Also known as: 1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta, LPLAT2

NCBI Gene: 10555 ENSG00000169692 UniProt: O15120

This gene encodes an enzyme that converts lysophosphatidic acid to phosphatidic acid in the endoplasmic reticulum, a critical step in phospholipid biosynthesis. Mutations cause congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome), characterized by near-complete absence of adipose tissue from birth and severe insulin resistance. This condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLipodystrophy, congenital generalized, 1

Clinical highlights

Gene-disease validity (ClinGen)

lipodystrophy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.54

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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