基因名称(Gene Name)
KRT81 KRTHB1 MLN137
蛋白名称
Keratin, type II cuticular Hb1 (Hair keratin K2.9) (Keratin, hair, basic, 1) (Keratin-81) (K81) (Metastatic lymph node 137 gene protein) (MLN 137) (Type II hair keratin Hb1) (Type-II keratin Kb21) (gh
免疫原
Synthesized peptide derived from human protein . at AA range: 40-120
特异性
KRT81 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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 KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008],
功能
caution:Maps to a duplicated region on chromosome 12.,disease:Defects in KRT81 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:Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is
