• Source: AGPAT2

1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene.




Function


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, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.




References






External links


Human AGPAT2 genome location and AGPAT2 gene details page in the UCSC Genome Browser.




Further reading

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• AGPAT2
• Congenital generalized lipodystrophy
• List of human protein-coding genes 1
• Familial partial lipodystrophy
• Phospholipid acyltransferase
• Seipin
• List of genes mutated in cutaneous conditions
• BSCL2
• List of OMIM disorder codes