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CYP4F22 Defects in CYP4F22 are the cause of ichthyosis lamellar type 3 (LI3). LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: EC 1.14.14.-; Oxidoreductase
Chromosomal Location of Human Ortholog: 19p13.12
Cellular Component: endoplasmic reticulum membrane
Molecular Function: heme binding; iron ion binding; monooxygenase activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
Biological Process: icosanoid metabolic process
Disease: Ichthyosis, Congenital, Autosomal Recessive 5
Reference #:  Q6NT55 (UniProtKB)
Alt. Names/Synonyms: CP4FN; CYP4F22; Cytochrome P450 4F22; cytochrome P450, family 2, subfamily E, polypeptide 2 homolog; cytochrome P450, family 4, subfamily F, polypeptide 22; FLJ39501; LI3
Gene Symbols: CYP4F22
Molecular weight: 61,958 Da
Basal Isoelectric point: 8.95  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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