KRT81 gene

keratin 81

The KRT81 gene provides instructions for making the type II hair keratin K81 protein (K81). This protein belongs to a group of proteins known as keratins, which are tough, fibrous proteins that form the structural framework of cells that make up the hair, skin, and nails. Each keratin protein partners with another keratin protein to form molecules called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the tissues and protect them from being damaged by everyday physical stresses. The K81 protein is found in cells that make up the inner compartment of the hair shaft known as the cortex, and this protein helps give hair its strength and elasticity.

At least two mutations in the KRT81 gene have been identified in people with monilethrix, a hair condition characterized by strands of hair with a beaded appearance and short, brittle hair that breaks easily. Mutations associated with this condition change a single protein building block (amino acid) in the K81 protein. The amino acid changes usually occur in a region of the K81 protein thought to be important in intermediate filament formation. In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the KRT81 gene are related to the abnormality in the cortex or the beaded appearance of the hair.

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13

Molecular Location: base pairs 52,285,913 to 52,291,534 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13
  • ghHb1
  • hair keratin K2.9
  • hard keratin, type II, 1
  • Hb-1
  • HB1
  • hHAKB2-1
  • hHb1
  • keratin-81
  • keratin 81, type II
  • keratin, hair, basic, 1
  • KRTHB1
  • type II hair keratin Hb1