This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
Function:
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle
Tissue Specificity:
Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level).
DISEASE:
Defects in KRT75 may be a cause of loose anagen hair syndrome (LAHS) [MIM:600628]. In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage.
Similarity:
Belongs to the intermediate filament family.
SWISS:
O95678
Gene ID:
9119
Database links:
Entrez Gene: 9119 Human
Entrez Gene: 109052 Mouse
Entrez Gene: 300247 Rat
Omim: 609025 Human
SwissProt: O95678 Human
SwissProt: Q8BGZ7 Mouse
SwissProt: Q6IG05 Rat
Unigene: 697046 Human
Unigene: 106868 Mouse
Unigene: 40975 Rat
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