DISEASES

Disease-gene associations mined from literature

Literature associating CYP4F22 and autosomal recessive congenital ichthyosis 7

CYP4F22 [ENSP00000269703]

Cytochrome P450 4F22; A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega- hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis . Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) .

Synonyms:  CYP4F22,  CYP4F22p,  hCYP4F22,  Q6NT55,  Q6NT55p ...

Linkouts:  STRING  Pharos  UniProt  OMIM