Entity Details

Primary name CYP4F22
Entity type gene
Source Source Link

Details

PrimaryID126410
RefseqGeneNG_007987
SymbolCYP4F22
Namecytochrome P450 family 4 subfamily F member 22
Chromosome19
Location19p13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCP4FN_HUMAN

GO terms

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GOName
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0005789 endoplasmic reticulum membrane
GO:0006690 icosanoid metabolic process
GO:0016021 integral component of membrane
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
GO:0046513 ceramide biosynthetic process

Diseases

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Disease IDSourceNameDescription
604777 OMIMIchthyosis, congenital, autosomal recessive 5 (ARCI5)A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
CYP4F22AQP6BioGRID, IntAct32296183 details
CYP4F22MSMO1BioGRID, IntAct32296183 details
CYP4F22TLCD4BioGRID, IntAct32296183 details
CYP4F22REEP2BioGRID, IntAct32296183 details