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.[provided by RefSeq, Jun 2009]
Function:
Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.
Subunit:
Heterodimer of a type I and a type II keratin. Associates with KRT16 and/or KRT17 (By similarity).
Tissue Specificity:
Highly expressed in hair follicles from scalp. Specifically expressed in the inner root sheath (IRS) of the hair follicle. Present in the all 3 IRS layers: the cuticle, the Henle and the Huxley layers. Also detected in the pseudopods of specialized Huxley cells, termed Fluegelzellen, along the area of differentiated Henle cells (at protein level).
DISEASE:
Hypotrichosis 13 (HYPT13) [MIM:615896]: 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 bodyhair involvement can be very variable, within as well as between
families. HYPT13 is characterized by sparse woolly hair.
Similarity:
Belongs to the intermediate filament family.
SWISS:
Q3SY84
Gene ID:
12562
Database links:
Entrez Gene: 12562 Human
Omim: 608245 Human
SwissProt: Q3SY84 Human
Unigene: 660007 Human
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