KRT85 Chromosome 12
Keratin 85
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What This Gene Does
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000135443
Associated Conditions (3)
KRT85-related disorder
Ectodermal dysplasia 4
hair/nail type
Key Variants
RS138267130
Conflicting classifications of pathogenicity
Health Risk
RS139493548
Conflicting classifications of pathogenicity
KRT85-related disorder, KRT85-related disorder
Health Risk
RS145033594
Conflicting classifications of pathogenicity
Health Risk
RS200758226
Conflicting classifications of pathogenicity
KRT85-related disorder, KRT85-related disorder
Health Risk
RS1565766888
Pathogenic
Ectodermal dysplasia 4, hair/nail type, Ectodermal dysplasia 4
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138267130 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139493548 | Health Risk | Conflicting classifications of pathogenicity | KRT85-related disorder, KRT85-related disorder |
| RS145033594 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200758226 | Health Risk | Conflicting classifications of pathogenicity | KRT85-related disorder, KRT85-related disorder |
| RS1565766888 | Health Risk | Pathogenic | Ectodermal dysplasia 4, hair/nail type, Ectodermal dysplasia 4 |