Alpha-galactosidase

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Galactosidase, alpha
PDB rendering based on 1r46.
Available structures: 1r46, 1r47
Identifiers
Symbol(s) GLA; GALA
External IDs OMIM: 301500 MGI: 1347344 Homologene: 55441
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2717 11605
Ensembl ENSG00000102393 ENSMUSG00000031266
Uniprot P06280 Q3TLY5
Refseq NM_000169 (mRNA)
NP_000160 (protein)		 NM_013463 (mRNA)
NP_038491 (protein)
Location Chr X: 100.54 - 100.55 Mb Chr X: 129.93 - 129.95 Mb
Pubmed search [1] [2]

Alpha-galactosidase is a glycoside hydrolase enzyme encoded by the GLA gene.


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.[1]


Contents

A deficiency is associated with Fabry's disease.

  1. ^ Entrez Gene: GLA galactosidase, alpha.

  • Eng CM, Desnick RJ (1994). "Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.". Hum. Mutat. 3 (2): 103-11. doi:10.1002/humu.1380030204. PMID 7911050. 
  • Caillaud C, Poenaru L (2002). "[Gaucher's and Fabry's diseases: biochemical and genetic aspects]". J. Soc. Biol. 196 (2): 135-40. PMID 12360742. 
  • Germain DP (2002). "[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]". J. Soc. Biol. 196 (2): 161-73. PMID 12360745. 
  • Schaefer E, Mehta A, Gal A (2005). "Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.". Acta paediatrica (Oslo, Norway : 1992). Supplement 94 (447): 87-92; discussion 79. PMID 15895718. 
  • Levin M (2006). "Fabry disease.". Drugs Today 42 (1): 65-70. doi:10.1358/dot.2006.42.1.957357. PMID 16511611. 
  • Lidove O, Joly D, Barbey F, et al. (2007). "Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.". Int. J. Clin. Pract. 61 (2): 293-302. doi:10.1111/j.1742-1241.2006.01237.x. PMID 17263716. 
  • Dean KJ, Sweeley CC (1979). "Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates.". J. Biol. Chem. 254 (20): 9994-10000. PMID 39940. 
  • Ishii S, Sakuraba H, Suzuki Y (1992). "Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.". Hum. Genet. 89 (1): 29-32. PMID 1315715. 
  • Ioannou YA, Bishop DF, Desnick RJ (1992). "Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.". J. Cell Biol. 119 (5): 1137-50. PMID 1332979. 
  • von Scheidt W, Eng CM, Fitzmaurice TF, et al. (1991). "An atypical variant of Fabry's disease with manifestations confined to the myocardium.". N. Engl. J. Med. 324 (6): 395-9. PMID 1846223. 
  • Koide T, Ishiura M, Iwai K, et al. (1990). "A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.". FEBS Lett. 259 (2): 353-6. PMID 2152885. 
  • Kornreich R, Bishop DF, Desnick RJ (1990). "Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.". J. Biol. Chem. 265 (16): 9319-26. PMID 2160973. 
  • Sakuraba H, Oshima A, Fukuhara Y, et al. (1990). "Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.". Am. J. Hum. Genet. 47 (5): 784-9. PMID 2171331. 
  • Bernstein HS, Bishop DF, Astrin KH, et al. (1989). "Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.". J. Clin. Invest. 83 (4): 1390-9. PMID 2539398. 
  • Kornreich R, Desnick RJ, Bishop DF (1989). "Nucleotide sequence of the human alpha-galactosidase A gene.". Nucleic Acids Res. 17 (8): 3301-2. PMID 2542896. 
  • Bishop DF, Kornreich R, Desnick RJ (1988). "Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.". Proc. Natl. Acad. Sci. U.S.A. 85 (11): 3903-7. PMID 2836863. 
  • Quinn M, Hantzopoulos P, Fidanza V, Calhoun DH (1988). "A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.". Gene 58 (2-3): 177-88. PMID 2892762. 
  • Bishop DF, Calhoun DH, Bernstein HS, et al. (1986). "Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.". Proc. Natl. Acad. Sci. U.S.A. 83 (13): 4859-63. PMID 3014515. 
  • Lemansky P, Bishop DF, Desnick RJ, et al. (1987). "Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.". J. Biol. Chem. 262 (5): 2062-5. PMID 3029062. 
  • Tsuji S, Martin BM, Kaslow DC, et al. (1987). "Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.". Eur. J. Biochem. 165 (2): 275-80. PMID 3036505. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

 This hydrolase article is a stub. You can help Wikipedia by expanding it.
v • d • e
Hydrolase: sugar hydrolases (EC 3.2)
3.2.1: Glycoside hydrolases Amylase (Alpha-Amylase) - Chitinase - Lysozyme - Neuraminidase - Galactosidases (Alpha, Beta) - alpha-Mannosidase - Glucuronidase - Hyaluronidase - Pullulanase - Glucocerebrosidase - Galactosylceramidase - Alpha-N-acetylglucosaminidase - Fucosidase - Hexosaminidase - Iduronidase - Disaccharidase (Sucrase/Sucrase-isomaltase/Invertase, Maltase, Trehalase, Lactase) - Glucosidases (Cellulase, Alpha-glucosidase, Beta-glucosidase, Debranching enzyme)
3.2.2: Hydrolysing N-Glycosyl compounds DNA glycosylases: Oxoguanine glycosylase
v • d • e
Sphingolipid metabolism enzymes
Arylsulfatase A - Ceramidase - Galactosidases (Alpha, Beta) - Galactosylceramidase - Glucocerebrosidase - Hexosaminidase - Sphingomyelin phosphodiesterase
Retrieved from "http://en.wikipedia.org/wiki/Alpha-galactosidase"
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