Lysosomal protective protein/cathepsin A (PPCA) is a lysosomal serine carboxypeptidase that forms an intralysosomal enzyme complex with ?galactosidase and neuraminidase (NEU1). PPCA is synthesized as a 54 kDa precursor/zymogen, and proteolytically cleaved in the lysosome into a catalytically active 32 and 20 kDa two chain enzyme. The enzyme has cathepsin A activity at acidic pH but maintains also a deamidase/esterase activity at neutral pH. Furthermore, the human enzyme, purified from platelets and lymphocytes, has been shown to function on the inactivation of selected neuropeptides, like substance P, oxytocin, and endothelin I. The autosomal recessive genetic deficiency of PPCA causes galactosialidosis, a neurodegenerative lysosomal storage disorder, resulting in the secondary deficiencies of ?galactosidase and NEU1.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
IF
Human, Mouse, Rat, Pig, Cow, Dog, Horse
1:100-500
交叉反应
交叉反应: Human, Mouse, Rat (predicted: Pig, Cow, Dog, Horse)
相关产品
暂无相关产品
靶标
基因名
CTSA
蛋白名
Lysosomal protective protein
亚基
Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked.
亚细胞定位
Lysosome.
疾病
Defects in CTSA are the cause of galactosialidosis (GSL) [MIM:256540]. A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival.
相似性
Belongs to the peptidase S10 family.
功能
Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.