KRT71 Chromosome 12
Keratin 71
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What This Gene Does
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000139648
Associated Conditions (2)
KRT71-related disorder
Hypotrichosis 13
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142303164 | Health Risk | Conflicting classifications of pathogenicity | KRT71-related disorder, KRT71-related disorder |
| RS587777545 | Health Risk | Pathogenic | Hypotrichosis 13, Hypotrichosis 13 |