The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
備考Protein concentration is above or equal to 0.05 mg/ml.
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Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.3% Glutathione, 0.79% Tris HCl
Focal non epidermolytic palmoplantar keratoderma
Keratin 1 type I
Keratin type I cytoskeletal 16
type I cytoskeletal 16
組織特異性Expressed in the hair follicle, nail bed and in mucosal stratified squamous epithelia and, suprabasally, in oral epithelium and palmoplantar epidermis. Also found in luminal cells of sweat and mammary gland ducts.
関連疾患Defects in KRT16 are a cause of pachyonychia congenita type 1 (PC1) [MIM:167200]; also known as Jadassohn-Lewandowsky syndrome. PC1 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. Defects in KRT16 are the cause of palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000]. A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. Defects in KRT16 are a cause of unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]. UPVN is characterized by a localized thickening of the skin in parts of the right palm and the right sole. Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.