MitoProteome Database

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

MT000662

UniProt Annotations

Entry Information

Gene Name	alkylglycerone phosphate synthase
Protein Entry	ADAS_HUMAN
UniProt ID	O00116
Species	Human

Comments

Comment type	Description
Catalytic Activity	1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a long-chain acid anion.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692;
Disease	Rhizomelic 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.
Function	Catalyzes 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}.
Pathway	Glycerolipid metabolism; ether lipid biosynthesis.
Similarity	Belongs to the FAD-binding oxidoreductase/transferase type 4 family. {ECO:0000305}.
Similarity	Contains 1 FAD-binding PCMH-type domain. {ECO:0000255\|PROSITE-ProRule:PRU00718}.
Subcellular Location	Peroxisome membrane. Note=Localized to the inner aspect of the peroxisomal membrane.
Subunit	Homodimer. {ECO:0000250}.