KRT71 Gene

KRT71 (keratin 71) is a protein coding gene located on chromosome 12q13.13.

Diseases associated with KRT71 include:

• Hypotrichosis 13 (Hypotrichosis (OMIM: 615896) which is characterized by abnormal, thin and atrophic hair follicles and shafts. The extent of scalp and body hair can vary widely both within and between families. HYPT13 is an autosomal dominant form characterized by sparse, frizzy hair).

and

• Autosomal dominantly inherited familial frizzy hair syndrome (Fujimoto A et al. 2012). A phenotypically identical clinical picture is associated with a mutation in KRT74 (Shimomura Y et al. 2010).

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. They are basically divided into epithelial keratins and hair keratins. KRT71 encodes a hair keratin (keratin 71) that plays a central role in hair formation. It is expressed in the inner root sheath of hair follicles and is an essential component of the keratin intermediate filaments in the inner root sheath of the hair follicle. Type II keratins are clustered in a region of chromosome 12q13 .

1. Fujimoto A et al. (2012) A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol 132: 2342-2349.
2. Harel S et al (2012) Keratin 71 mutations: from water dogs to woolly hair. J Invest Dermatol 132: 2315-2317.
3. Shimomura Y et al (2010) Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet 86:632-638.