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Rabbit Anti-MANBAL antibody
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
Subcellular Location:
Membrane; Single-pass membrane protein
Similarity:
Belongs to the UPF0239 family.
SWISS:
Q9NQG1
Gene ID:
63905
Database links:
Entrez Gene: 63905 Human
Entrez Gene: 499934 Rat
SwissProt: Q9NQG1 Human
Unigene: 6126 Human
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