Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
IHC-P
Human
1:50-200
IHC-F
Human
1:50-200
IF
Human
1:50-200
交叉反应
交叉反应: Human
相关产品
暂无相关产品
靶标
基因名
ACP5
蛋白名
Tartrate-resistant acid phosphatase type 5
亚基
Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s).
亚细胞定位
Lysosome.
疾病
Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]. A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. Note=ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.
相似性
Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
功能
Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]. A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. Note=ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease.