KRT83 Chromosome 12
Keratin 83
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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. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000170523
Associated Conditions (3)
Monilethrix
Erythrokeratodermia variabilis et progressiva 5
Monilethrix-3
Key Variants
RS139360978
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS143037477
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS149581248
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS200232339
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS200274404
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS201459857
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS373203286
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS376193228
Conflicting classifications of pathogenicity
Health Risk
RS553152302
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS753293188
Conflicting classifications of pathogenicity
Erythrokeratodermia variabilis et progressiva 5, Erythrokeratodermia variabilis et progressiva 5
Health Risk
RS764238442
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
RS770757336
Conflicting classifications of pathogenicity
Monilethrix, Monilethrix
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139360978 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS143037477 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS149581248 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS200232339 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS200274404 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS201459857 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS373203286 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS376193228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS553152302 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS753293188 | Health Risk | Conflicting classifications of pathogenicity | Erythrokeratodermia variabilis et progressiva 5, Erythrokeratodermia variabilis et progressiva 5 |
| RS764238442 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS770757336 | Health Risk | Conflicting classifications of pathogenicity | Monilethrix, Monilethrix |
| RS57802288 | Health Risk | Likely pathogenic | Monilethrix-3, Monilethrix, Monilethrix-3 |
| RS786205480 | Health Risk | Likely pathogenic | — |
| RS1438087533 | Health Risk | Pathogenic | Monilethrix-3, Monilethrix-3 |