Entity Details
Primary name |
CYP4F22 |
Entity type |
gene |
Source |
Source Link |
Details
PrimaryID | 126410 |
RefseqGene | NG_007987 |
Symbol | CYP4F22 |
Name | cytochrome P450 family 4 subfamily F member 22 |
Chromosome | 19 |
Location | 19p13.12 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2001-11-29 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
604777 | OMIM | Ichthyosis, 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