Endogenous

KRT83 KRTHB3

Keratin, type II cuticular Hb3 (Hair keratin K2.10) (Keratin-83) (K83) (Type II hair keratin Hb3) (Type-II keratin Kb23)

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008],

Caution:Maps to a duplicated region on chromosome 12.,Disease:Defects in KRT83 are a cause of Monilethrix [MIM:158000]. 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.,miscellaneous:There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).,similarity:Belongs to the intermediate filament family.,subunit: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.,

extracellular space,keratin filament,

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.