This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]
Function:
Heterotetramer of two type I and two type II keratins.
Tissue Specificity:
Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.
DISEASE:
Defects in KRT83 are a cause of monilethrix (MLTRX) [MIM:31600]. Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
Similarity:
Belongs to the intermediate filament family.
SWISS:
P78385
Gene ID:
3889
Database links:
Entrez Gene: 3889 Human
Entrez Gene: 406219 Mouse
Entrez Gene: 300246 Rat
Omim: 602765 Human
SwissProt: P78385 Human
SwissProt: Q6IMF0 Mouse
Unigene: 720768 Human
Unigene: 347934 Mouse
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