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The official name of this gene is “cytochrome P450, family 4, subfamily F, polypeptide 22.”
CYP4F22 is the gene's official symbol. The CYP4F22 gene is also known by other names, listed below.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
Ichthyosis, lamellar, 3 (LI3): 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
|||604777 (http://omim.org/entry/604777)||ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5|
|611495 (http://omim.org/entry/611495)||CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22|
Cytogenetic Location: 19p13.12
Molecular Location on chromosome 19: base pairs 15,619,335 to 15,663,127
The CYP4F22 gene is located on the short (p) arm of chromosome 19 at position 13.12.
More precisely, the CYP4F22 gene is located from base pair 15,619,335 to base pair 15,663,127 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CYP4F22 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alopecia ; cholesterol ; chromosome ; cytochrome P450 ; enzyme ; epidermis ; erythroderma ; gene ; ichthyosis ; metabolism ; steroids ; synthesis ; translucent
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.