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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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location


Single cell type specificity

Cell type enhanced (Proximal enterocytes, Distal enterocytes, Paneth cells, Late spermatids)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (HDLM-2)

Molecular function

Acyltransferase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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