Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 126410
MIM: 611495
HGNC: 26820
Ensembl: ENSG00000171954
Variants:
dbSNP: 126410
ClinVar: 126410
TCGA: ENSG00000171954
COSMIC: CYP4F22
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171954 | ENST00000269703 | Q6NT55 |
| ENSG00000171954 | ENST00000601005 | Q6NT55 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33067036 | 2021 | Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations. | 2 |
| 33067036 | 2021 | Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations. | 2 |
| 32069299 | 2020 | Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. | 4 |
| 32069299 | 2020 | Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. | 4 |
| 31020658 | 2019 | A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene. | 4 |
| 31020658 | 2019 | A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene. | 4 |
| 30011118 | 2018 | Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. | 12 |
| 30011118 | 2018 | Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. | 12 |
| 27735052 | 2017 | Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. | 3 |
| 27735052 | 2017 | Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. | 3 |
| 26646773 | 2016 | Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. | 0 |
| 26646773 | 2016 | Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. | 0 |
| 23871423 | 2013 | Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. | 6 |
| 23871423 | 2013 | Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. | 6 |
| 22209317 | 2012 | CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development. | 1 |
Citation
Dessen P
CYP4F22 (cytochrome P450 family 4 subfamily F member 22)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62261/cyp4f22-(cytochrome-p450-family-4-subfamily-f-member-22)
