MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP003590

UniProt Annotations

Entry Information
Gene Namealkylglycerone phosphate synthase
Protein EntryADAS_HUMAN
UniProt IDO00116
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a long-chain acid anion.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692;
DiseaseRhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]: A disease characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:21990100, ECO:0000269|PubMed:9553082}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids. {ECO:0000250}.
PathwayGlycerolipid metabolism; ether lipid biosynthesis.
SimilarityBelongs to the FAD-binding oxidoreductase/transferase type 4 family. {ECO:0000305}.
SimilarityContains 1 FAD-binding PCMH-type domain. {ECO:0000255|PROSITE-ProRule:PRU00718}.
Subcellular LocationPeroxisome membrane. Note=Localized to the inner aspect of the peroxisomal membrane.
SubunitHomodimer. {ECO:0000250}.
  logo