Gene Symbol | GNPAT |
Entrez Gene ID | 8443 |
Full Name | glyceronephosphate O-acyltransferase |
Synonyms | DAP-AT,DAPAT,DHAPAT,RCDP2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. |
Disorder MIM: | |
Disorder Html: | Rhizomelic chondrodysplasia punctata, type 2, 222765 (3) |