KRT74 Chromosome 12
Keratin 74
Upload your DNA to see your personal genotypes for variants in KRT74.
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 protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000170484
Associated Conditions (6)
Ectodermal dysplasia 4
hair/nail type
Ectodermal dysplasia 7
KRT74-related disorder
Autosomal dominant wooly hair
Hypotrichosis 3
Key Variants
RS111298318
Conflicting classifications of pathogenicity
Health Risk
RS138437710
Conflicting classifications of pathogenicity
Health Risk
RS139463422
Conflicting classifications of pathogenicity
Health Risk
RS147395404
Conflicting classifications of pathogenicity
Health Risk
RS147962513
Conflicting classifications of pathogenicity
Ectodermal dysplasia 4, hair/nail type, Ectodermal dysplasia 7
Health Risk
RS550696981
Conflicting classifications of pathogenicity
Health Risk
RS775208348
Conflicting classifications of pathogenicity
Health Risk
RS267607205
Pathogenic
Autosomal dominant wooly hair, Autosomal dominant wooly hair
Health Risk
RS267607477
Pathogenic
Hypotrichosis 3, Hypotrichosis 3
Health Risk
RS267607478
Pathogenic
Autosomal dominant wooly hair, Autosomal dominant wooly hair
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111298318 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138437710 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139463422 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147395404 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147962513 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 4, hair/nail type, Ectodermal dysplasia 7 |
| RS550696981 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775208348 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS267607205 | Health Risk | Pathogenic | Autosomal dominant wooly hair, Autosomal dominant wooly hair |
| RS267607477 | Health Risk | Pathogenic | Hypotrichosis 3, Hypotrichosis 3 |
| RS267607478 | Health Risk | Pathogenic | Autosomal dominant wooly hair, Autosomal dominant wooly hair |