The ZK550.6 gene encodes an ortholog of the human gene PHYTANOYL-COA HYDROXYLASE (PHYH; PAHX; OMIM:602026), which when mutated leads to Refsum disease (OMIM:266500).
Predicted to enable phytanoyl-CoA dioxygenase activity. Predicted to be involved in fatty acid alpha-oxidation. Expressed in intestine. Human ortholog(s) of this gene implicated in Refsum disease; Zellweger syndrome; and orofacial cleft. Is an ortholog of human PHYH (phytanoyl-CoA 2-hydroxylase).