AGPAT2 - 1-acyl-sn-glycerol-3-phosphate acyltransferase beta - human protein (Medical)
 
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AGPAT2 »  1-acyl-sn-glycerol-3-phosphate acyltransferase beta   [ EC 2.3.1.51 ]
 
Protein also known as:  1-acylglycerol-3-phosphate O-acyltransferase 2 (1-AGPAT 2).
Gene name:  AGPAT2
Entry whose protein(s) existence is based on evidence at protein level
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1 30 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Berardinelli-Seip congenital lipodystrophy  528  
 

Keywords

Disease 
Congenital generalized lipodystrophy  definition   [KW-1022]
Diabetes mellitus  definition   [KW-0219]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 10555
GeneReviews: AGPAT2
MIM: 608594
PharmGKB: PA24622
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.