背景
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.
