Lysosomal Protective (CTSA) ELISA Kit for Human

This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]

CTSA: 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. Defects in CTSA are the cause of galactosialidosis (GSL). 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. Belongs to the peptidase S10 family.

Protein type: EC 3.4.16.5; Endoplasmic reticulum; Protease; Mitochondrial

Chromosomal Location of Human Ortholog: 20q13.1

Cellular Component: endoplasmic reticulum; intracellular membrane-bound organelle; lysosomal lumen; lysosome; membrane; nucleoplasm

Molecular Function: carboxypeptidase activity; enzyme activator activity; serine carboxypeptidase activity

Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; glycosphingolipid metabolic process; intracellular protein transport; positive regulation of catalytic activity; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; proteolysis; proteolysis involved in cellular protein catabolic process; regulation of protein stability; sphingolipid metabolic process

Disease: Galactosialidosis