The KRT1 gene homepage
| General information |
| Gene symbol |
KRT1 |
| Gene name |
keratin 1 |
| Chromosome |
12 |
| Chromosomal band |
q13.13 |
| Imprinted |
- |
| Genomic reference |
NG_008364.1 |
| Transcript reference |
NM_006121.3 |
| 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 spinous and
granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with
bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome
12q12-q13. |
| Date created |
August 07, 2013 |
Active transcripts
| Copyright & disclaimer |
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