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Gene : GLB1 Homo sapiens

Name  ? galactosidase beta 1 Cytological Location  3p22.3
Brief Description  galactosidase beta 1
description  This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
  • synonyms:
  • GLB1,
  • HGNC:4298,
  • M22590,
  • EBP,
  • elastin receptor 1 (67kD),
  • galactosidase, beta 1,
  • OTTHUMG00000155781,
  • ELNR1,
  • ELNR1,
  • uc003cfi.2,
  • EBP,
  • MPS4B,
  • NM_000404,
  • elastin receptor 1, 67kDa
  • identifiers:
  • 2720,
  • ENSG00000170266,
  • GLB1

Genome feature

Region: gene ? Length: 100623  
Location: 3:32996608-33097230 reverse strand Cyto location: 3p22.3


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Disease

4 Diseases

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435 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results