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Protein Page:
K83 (human)

K83 Defects in KRT83 are a cause of monilethrix (MLTRX). 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. Belongs to the intermediate filament family. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 12q13
Cellular Component: extracellular space
Molecular Function: protein binding
Biological Process: aging; epidermis development; hair cycle
Disease: Monilethrix
Reference #:  P78385 (UniProtKB)
Alt. Names/Synonyms: hard keratin, type II, 3; K83; keratin 83; keratin, hair, basic, 3; keratin, type II cuticular Hb3; keratin-83; KRT83; KRTHB3; type II hair keratin Hb3; type-II keratin Kb23
Gene Symbols: KRT83
Molecular weight: 54,195 Da
Basal Isoelectric point: 5.54  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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