Entrez gene ID | | 5476 |
Official gene symbol | | CTSA |
Full name | | cathepsin A |
Aliases | | ,GLB2,GSL,NGBE,PPCA,PPGB, |
Gene summary | | 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] |
Location | | Chromosome: 20 Locus: 20q13.1 |
Gene position | | 44519591 - 44527459 Map Viewer |
Gene orientation | | plus |
Gene size | | 7869 bp |
Gene sequence |
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OMIM ID | | 613111 |