Aliases for CTSA Gene
External Ids for CTSA Gene
Previous HGNC Symbols for CTSA Gene
Previous GeneCards Identifiers for CTSA Gene
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]
GeneCards Summary for CTSA Gene
CTSA (Cathepsin A) is a Protein Coding gene. Diseases associated with CTSA include Galactosialidosis and Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy. Among its related pathways are Sphingolipid metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include enzyme activator activity and serine-type carboxypeptidase activity. An important paralog of this gene is CPVL.
UniProtKB/Swiss-Prot Summary for CTSA Gene
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.
Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z).