Literature associating PHYHD1 and Ehlers-Danlos syndrome hypermobility type
PHYHD1 [ENSP00000309515]
Phytanoyl-CoA dioxygenase domain-containing protein 1; Isoform 1 has alpha-ketoglutarate-dependent dioxygenase activity. Does not show detectable activity towards fatty acid CoA thioesters. Is not expected to be active with phytanoyl CoA. Isoform 2 and isoform 3 probably lack enzyme activity.
Synonyms: PHYHD1, PHYHD1p, hPHYHD1, A0A024R893, F8WCG7 ...