KRT79
KRT79 is a gene that encodes the keratin 79 protein in humans. It is a member of the keratin family, which is a group of fibrous structural proteins that form the main component of the epithelial cells, which are cells that line the surfaces of the body.
Function[edit | edit source]
The KRT79 gene is specifically expressed in the hair follicle. Keratins are involved in the formation of the mechanical support structure for these cells. The KRT79 protein is a type II keratin, one of the two types of keratins found in humans. Type II keratins are rich in cysteine residues, which form disulfide bonds that contribute to the structural stability of the keratin proteins.
Clinical significance[edit | edit source]
Mutations in the KRT79 gene have been associated with monilethrix, a rare autosomal dominant hair disorder characterized by beaded or moniliform hair shafts. This condition leads to hair fragility and patchy alopecia (hair loss).
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
