dbSNP |
dbSNP ID: 20302 |
Gene Cards |
PPGB |
Gene Ontology |
GO:0004186 carboxypeptidase C activity |
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GO:0005478 intracellular transporter activity |
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GO:0005764 lysosome |
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GO:0005783 endoplasmic reticulum |
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GO:0006508 proteolysis and peptidolysis |
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GO:0006886 intracellular protein transport |
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GO:0008047 enzyme activator activity |
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GO:0016787 hydrolase activity |
NCBI Gene |
Gene ID:5476 |
NCBI GTR |
256540 GALACTOSIALIDOSIS; GSL |
OMIM |
256540 GALACTOSIALIDOSIS; GSL |
Omim Description |
BETA-GALACTOSIDASE 2; GLB2, INCLUDED |
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CATHEPSIN A, DEFICIENCY OF |
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GALACTOSIALIDOSIS; GSL |
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GOLDBERG SYNDROME |
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LYSOSOMAL PROTECTIVE PROTEIN, DEFICIENCY OF |
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NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY |
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NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION; NGBE |
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PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY; PPCA DEFICIENCYBETA-GALACTOSIDASE PROTECTIVE PROTEIN; PPGB, INCLUDED |
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PROTECTIVE PROTEIN/CATHEPSIN A; PPCA, INCLUDED CARBOXYPEPTIDASE L,INCLUDED |