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MGP002382

UniProt Annotations

Entry Information
Gene Namecathepsin A
Protein EntryPPGB_HUMAN
UniProt IDP10619
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10619-1; Sequence=Displayed; Name=2; IsoId=P10619-2; Sequence=VSP_054832; Note=Gene prediction based on EST data.;
Catalytic ActivityRelease of a C-terminal amino acid with broad specificity. {ECO:0000255|PROSITE-ProRule:PRU10074, ECO:0000255|PROSITE-ProRule:PRU10075}.
DiseaseGalactosialidosis (GSL) [MIM:256540]: A lysosomal storage disease associated with a combined deficiency of beta- galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. {ECO:0000269|PubMed:10944848, ECO:0000269|PubMed:1756715, ECO:0000269|PubMed:8514852, ECO:0000269|PubMed:8968752}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionProtective 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. {ECO:0000269|PubMed:1907282}.
Sequence CautionSequence=CAI20248.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the peptidase S10 family. {ECO:0000305}.
Subcellular LocationLysosome.
SubunitHeterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked.
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