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KRT83 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KRT83 gene

The KRT83 gene provides instructions for making a protein essential for the structural integrity, strength, and elasticity of hair.

Normal Function

The KRT83 gene provides instructions for making the type II hair keratin K83 protein (K83). This protein belongs to a group of proteins known as keratins, which are tough, fibrous proteins that form the structural framework of cells in the hair, skin, and nails. Each keratin protein partners with another to form molecules called intermediate filaments. These filaments assemble into strong networks that provide resiliency to tissues and protect them from physical stress. The K83 protein is found in the inner compartment of the hair shaft, known as the cortex, where it contributes to hair strength and elasticity.

Health Conditions Related to Genetic Changes

Monilethrix

Mutations in the KRT83 gene can cause monilethrix, a hair condition characterized by strands with a beaded appearance and short, brittle hair that breaks easily. Key features include:

  • Mutations change a single amino acid in the K83 protein.
  • These changes typically occur in a region of the protein important for intermediate filament formation.
  • In affected individuals, the cortex of the hair shaft appears abnormal, though the exact relationship between the gene mutation and the beaded appearance remains unclear.

Erythrokeratodermia variabilis et progressiva

MedlinePlus Genetics provides information about Erythrokeratodermia variabilis et progressiva.

Other Names for This Gene

  • hair keratin K2.10
  • hard keratin, type II, 3
  • Hb-3
  • HB3
  • hHb3
  • K83
  • keratin 83, type II
  • keratin, hair, basic, 3
  • keratin-83
  • KRT83_HUMAN
  • KRTHB3
  • type II hair keratin Hb3
  • type-II keratin Kb23

Frequently Asked Questions

Monilethrix due to KRT83 is most often inherited in an autosomal‑dominant pattern, meaning a single altered copy of the gene can cause the condition. However, reduced penetrance and variable expressivity are common, so some carriers may have very mild or no obvious hair changes. Rarely, recessive inheritance has been reported when two different pathogenic variants are present.
The preferred test is a targeted DNA sequencing panel that includes the KRT83 coding regions and exon‑intron boundaries. If a specific family mutation is already known, a single‑variant test (Sanger sequencing or targeted PCR) can be used. Whole‑exome or whole‑genome sequencing can also detect KRT83 changes, but they may generate additional incidental findings.
While there is no cure, gentle hair‑care can reduce breakage: use a mild, sulfate‑free shampoo, avoid heat styling, limit chemical treatments, and detangle with a wide‑tooth comb while hair is wet and conditioned. Topical minoxidil 2% or 5% has helped some patients improve hair density, and low‑level laser therapy may increase shaft strength, but results vary. Nutritional support (biotin, zinc, iron) is advisable if deficiencies are present.
Yes. If the specific pathogenic KRT83 variant has been identified in a parent, chorionic villus sampling or amniocentesis can be used for prenatal diagnosis, and pre‑implantation genetic testing for monogenic disorders (PGT‑M) can be offered during in‑vitro fertilization to select embryos without the mutation. Counseling with a genetics professional is recommended to discuss accuracy, risks, and ethical considerations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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