AGPAT2

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]

Description

1-acylglycerol-3-phosphate O-acyltransferase 2

Tissue specificity

Tissue enhanced (adipose tissue, breast, liver)

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (136673143 - 136687457)

Ensembl ID

ENSG00000169692  (ver. 103.38)

Orthologs

Mouse Agpat2: ENSMUSG00000026922

UniProt

O15120

neXtProt

NX_O15120

Human splice variants
Mouse splice variants

Protein structure