Full Name: Cathepsin A
BACKGROUND: 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.
Synonyms: GLB2; GSL; NGBE; PPCA; PPGB
Research Areas: Metabolism
Pathways: Metabolism Pathway
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