GNPAT

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]

Full Name

Glyceronephosphate O-Acyltransferase

Function

Dihydroxyacetonephosphate acyltransferase involved in plasmalogen biosynthesis.

Biological Process

Cerebellum morphogenesis Source: Ensembl
Ether lipid biosynthetic process Source: UniProtKB
Fatty acid metabolic process Source: GO_Central
Membrane organization Source: Ensembl
Paranodal junction assembly Source: Ensembl
Phosphatidic acid biosynthetic process Source: Reactome
Phospholipid biosynthetic process Source: GO_Central
Response to drug Source: Ensembl
Response to fatty acid Source: Ensembl
Response to nutrient Source: Ensembl
Response to starvation Source: Ensembl
Synapse assembly Source: Ensembl

Cellular Location

Peroxisome membrane. Exclusively localized to the lumenal side of the peroxisomal membrane.

Involvement in disease

Rhizomelic chondrodysplasia punctata 2 (RCDP2):
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.