KRT71

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13

Full Name

keratin 71

Function

Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.

Biological Process

Hair follicle morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Intermediate filament organizationManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm, cytoskeleton

Involvement in disease

Hypotrichosis 13 (HYPT13):
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair.