KRT74 Gene

KRT74 (keratin 74) is a protein-coding gene located on chromosome 12 at gene locus q13.13 which is located in the type II keratin gene cluster. KRT74 encodes epithelial (soft) keratin 74 specific for the inner root sheath (IRS) (Shimomura Y et al. 2010). Keratin 74 plays an important role in hair formation.

Diseases associated with KRT74 include:

• Ectodermal dysplasia 7, hair/nail type (this is a form of ectodermal dysplasia due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands. It is related to (or identical to) autosomal dominant inherited frizz hair syndrome - Wasif N et al 2011).

And

• Hypotrichosis 3 (OMIM: 613981, Hypotrichosis simplex of the scalp 2).

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are divided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.

1. 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.
2. Wasif N et al (2011) Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet 129:419-424.