CTSA
CTSA (Cathepsin A) is a Protein Coding gene. Diseases associated with CTSA include Galactosialidosis and Glycoproteinosis. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include enzyme activator activity and serine-type carboxypeptidase activity.
Function
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.
Biological Process
Glycosphingolipid metabolic process Source: Reactome
Intracellular protein transport Source: ProtInc
Negative regulation of chaperone-mediated autophagy Source: ParkinsonsUK-UCL
Neutrophil degranulation Source: Reactome
Proteolysis Source: ParkinsonsUK-UCL
Regulation of chaperone-mediated autophagy Source: ParkinsonsUK-UCL
Regulation of protein stability Source: ParkinsonsUK-UCL
Involvement in disease
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.
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Datasheet