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K86 Defects in KRT86 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: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 12q13.13
Cellular Component: cytosol; extracellular space; keratin filament
Molecular Function: protein binding; structural molecule activity
Biological Process: keratinization
Disease: Monilethrix
Reference #:  O43790 (UniProtKB)
Alt. Names/Synonyms: FLJ25176; Hair keratin K2.11; hard keratin, type II, 6; Hb1; HB6; hHb6; K86; keratin 86; keratin protein HB6; keratin, hair, basic, 6 (monilethrix); Keratin, type II cuticular Hb6; Keratin-86; KRT86; KRTHB1; KRTHB6; MNX; Type II hair keratin Hb6; Type-II keratin Kb26
Gene Symbols: KRT86
Molecular weight: 53,501 Da
Basal Isoelectric point: 5.56  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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