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

rs121909129 in KRT86 gene and Monilethrix PMID 10504448 1999 Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

PMID 10469314 1999 Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

PMID 10594761 1999 Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.

PMID 9402962 1997 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.