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Gene Ontology Classifications
Symbol
Name
ID
Gla
galactosidase, alpha
MGI:1347344

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Gla. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 3, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Abe A et al. (2000) Reduction of globotriaosylceramide in fabry disease mice by substrate deprivation J Clin Invest, 105:1563-71. (PubMed:10841515)
  2. Adler DA et al. (1977) Expression of alpha-galactosidase in preimplantation mouse embryos. Nature, 267:838-9. (PubMed:895843)
  3. Bodary PF et al. (2005) Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency Circulation, 111:629-32. (PubMed:15668341)
  4. Chamberlain JS et al. (1987) Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet, 13:671-8. (PubMed:2890215)
  5. Chapman VM et al. (1983) Electrophoretic variation for X chromosome-linked hypoxanthine phosphoribosyl transferase (HPRT) in wild-derived mice. Genetics, 103:785-95. (PubMed:6852525)
  6. Francke U et al. (1977) Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Cytogenet Cell Genet, 19:57-84. (PubMed:198184)
  7. Francke U et al. (1980) Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. Proc Natl Acad Sci U S A, 77:3595-9. (PubMed:6251472)
  8. Ioannou YA et al. (2001) Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet, 68:14-25. (PubMed:11115376)
  9. Itoh Y et al. (2001) Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease. J Neurochem, 79:1217-24. (PubMed:11752062)
  10. Lusis AJ et al. (1978) X-linked and autosomal genes controlling mouse alpha-galactosidase expression. Genetics, 88:327-42. (PubMed:205481)
  11. Lusis AJ et al. (1976) X-linked inheritance of a structural gene for alpha-galactosidase in Mus musculus. Biochem Genet, 14:849-55. (PubMed:1008807)
  12. Mullins LJ et al. (1988) Multilocus molecular mapping of the mouse X chromosome. Genomics, 3:187-94. (PubMed:2906327)
  13. Ohshima T et al. (1997) alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A, 94:2540-4. (PubMed:9122231)
  14. Takenaka T et al. (2000) Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci U S A, 97:7515-20. (PubMed:10840053)
  15. Yam GH et al. (2005) A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J, 19:12-8. (PubMed:15629890)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory