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 glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CTSA Gene
CTSA (Cathepsin A) is a Protein Coding gene. Diseases associated with CTSA include galactosialidosis and ring chromosome 20. Among its related pathways are Class I MHC mediated antigen processing and presentation and Sphingolipid metabolism. 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 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). Most cathepsins are endopeptidases, with the exception of cathepsin C and Z. Cathepsins are synthesized as inactive proenzymes, glycosylated post-translationally, and directed towards the lysosomal compartment by cellular mannose-6-phosphate receptors. Their activity is regulated by several mechanisms including regulation of synthesis, zymogen processing, inhibition by endogenous inhibitors (e.g. stefins and cystatins for cysteine cathepsins) and pH. The main function of cathepsins is protein recycling within the lysosome but they are also known to be involved in a range of other physiological, as well as pathological processes, including maturation of the MHC class II complex, bone remodeling, keratinocyte differentiation, tumor progression and metastasis, rheumatoid arthritis, osteoarthritis and atherosclerosis.