Gene: KRT83

Alternate names for this Gene: EKVP5|HB3|Hb-3|KRTHB3|MNLIX

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 KRTHB1 and KRTHB6, is found primarily in the hair cortex.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: keratin 83

Type of Gene: protein-coding

rs10876278 in KRT83 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs57802288 in KRT83 gene and Monilethrix PMID 15744029 2005 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

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