Gene Symbol | CTSA |
Entrez Gene ID | 5476 |
Full Name | cathepsin A |
Synonyms | GLB2,GSL,NGBE,PPCA,PPGB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Galactosialidosis, 256540 (3) |