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 absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: extracellular space,keratin filament,
组织表达: Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.
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 absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: extracellular space,keratin filament,
组织表达: Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.