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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

CYP4F22

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CYP4F22 gene?

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.

What is the normal function of the CYP4F22 gene?

From Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/126410):

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]

How are changes in the CYP4F22 gene related to health conditions?

Genetics Home Reference provides information about lamellar ichthyosis, which is associated with changes in the CYP4F22 gene.
UniProt (http://www.uniprot.org/uniprot/Q6NT55) provides the following information about the CYP4F22 gene's known or predicted involvement in human disease.

Ichthyosis, lamellar, 3 (LI3)[1]: 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.

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]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

Where is the CYP4F22 gene located?

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.

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.

Where can I find additional information about CYP4F22?

You and your healthcare professional may find the following resources about CYP4F22 helpful.

  • Genetic Testing Registry - Repository of genetic test information
    • GTR: Genetic tests for CYP4F22 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=126410%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • OMIM - Genetic disorder catalog
    • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (http://omim.org/entry/604777)
    • CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22 (http://omim.org/entry/611495)
  • Research Resources - Tools for researchers
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/126410)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id=126410&id_type=entrezgene)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=26820)
    • UniProt (http://www.uniprot.org/uniprot/Q6NT55)

What other names do people use for the CYP4F22 gene or gene products?

  • ARCI5
  • INLNE
  • LI3

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CYP4F22?

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.

 
Published: May 20, 2013