Gene: KRT81
Alternate names for this Gene: HB1|Hb-1|KRTHB1|MLN137|ghHkb1|hHAKB2-1
Gene Summary: 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 KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix.
Gene is located in Chromosome: 12
Location in Chromosome : 12q13.13
Description of this Gene: keratin 81
Type of Gene: protein-coding
Gene: KRT86
Alternate names for this Gene: HB6|Hb1|K86|KRTHB1|KRTHB6|MNX
Gene Summary: 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.
Gene is located in Chromosome: 12
Location in Chromosome : 12q13.13
Description of this Gene: keratin 86
Type of Gene: protein-coding
rs57419521 in
KRT81;KRT86 gene and
Monilethrix
PMID 9402962 1997 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.
PMID 9665406 1998 A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.