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Gene : GLA Homo sapiens

Name  ? galactosidase alpha Cytological Location  Xq22.1
Brief Description  galactosidase alpha
description  This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
  • synonyms:
  • GALA,
  • uc004ehl.2,
  • HGNC:4296,
  • GALA,
  • GLA,
  • X16889,
  • OTTHUMG00000022026,
  • NM_000169
  • identifiers:
  • 2717,
  • ENSG00000102393,
  • GLA

Genome feature

Region: gene ? Length: 10223  
Location: X:101397791-101408013 reverse strand Cyto location: Xq22.1


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Disease

1 Diseases

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440 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results