This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Rat
Human, Mouse
1:500-1000
IHC-P
Human, Rat, Mouse
1:50-200
IHC-F
Human, Rat, Mouse
1:50-200
IF
Human, Rat, Mouse
1:50-200
交叉反应
交叉反应: Human, Rat (predicted: Mouse)
相关产品
暂无相关产品
靶标
基因名
KRT9
蛋白名
Keratin, type I cytoskeletal 9
组织特异性
Expressed in the terminally differentiated epidermis of palms and soles.
疾病
Defects in KRT9 are a cause of palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]; also abbreviated as EHPPK. EPPK is a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present with knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.
相似性
Belongs to the intermediate filament family.
功能
May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.