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

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/KRT1
External URL NM_006121
Mendelian genes
HGNC 6412
Entrez Gene 3848
PubMed articles KRT1
OMIM - Gene 139350
OMIM - Diseases WD (wilson disease)
HGMD KRT1
GeneCards KRT1
GeneTests KRT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000071 12 keratin 1 NM_006121.3 - -


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.