The KRT5 gene homepage
| General information |
| Gene symbol |
KRT5 |
| Gene name |
keratin 5 |
| Chromosome |
12 |
| Chromosomal band |
q13.13 |
| Imprinted |
- |
| Genomic reference |
NG_008297.1 |
| Transcript reference |
NM_000424.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
- |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
0 |
| Unique public DNA variants reported |
0 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. |
| Date created |
October 28, 2013 |
Active transcripts
| Copyright & disclaimer |
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