KRT86 Chromosome 12
Keratin 86
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What This Gene Does
This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13
Ensembl
ENSG00000170442
Associated Conditions (2)
Monilethrix
Monilethrix-1
Key Variants
RS121909129
Pathogenic
Monilethrix, Monilethrix
Health Risk
RS121909130
Pathogenic
Monilethrix, Monilethrix
Health Risk
RS60612575
Pathogenic
Monilethrix, Monilethrix
Health Risk
RS60687604
Pathogenic
Monilethrix, Monilethrix-1, Monilethrix
Health Risk
RS61091894
Pathogenic
Monilethrix, Monilethrix
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909129 | Health Risk | Pathogenic | Monilethrix, Monilethrix |
| RS121909130 | Health Risk | Pathogenic | Monilethrix, Monilethrix |
| RS60612575 | Health Risk | Pathogenic | Monilethrix, Monilethrix |
| RS60687604 | Health Risk | Pathogenic | Monilethrix, Monilethrix-1, Monilethrix |
| RS61091894 | Health Risk | Pathogenic | Monilethrix, Monilethrix |