KRT75
Function
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
Involvement in disease
Loose anagen hair syndrome
LAHS
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.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the intermediate filament family.
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).
Alternative names
K6HF, KB18, KRT75, Cytokeratin-75, Keratin-6 hair follicle, Keratin-75, Type II keratin-K6hf, Type-II keratin Kb18, CK-75, hK6hf, K75