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This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome.
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Protein Aliases: Aging-associated gene 5 protein; aging-associated protein 5; Alkyl-DHAP synthase; alkyl-dihydroxyacetonephosphate synthase; alkyldihydroxyacetone phosphate synthase; Alkyldihydroxyacetonephosphate synthase, peroxisomal; alkylglycerone phosphate synthase-like; Alkylglycerone-phosphate synthase
Gene Aliases: 5832437L22; 9930035G10Rik; AAG5; ADAP-S; Adaps; ADAS; ADHAPS; ADPS; Ads; AGPS; ALDHPSY; AW123847; bs2; RCDP3
UniProt ID: (Human) O00116, (Rat) Q9EQR2, (Mouse) Q8C0I1
Entrez Gene ID: (Human) 8540, (Rat) 84114, (Mouse) 228061
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