Alpha-galactosidase
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| Galactosidase, alpha
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| PDB rendering based on 1r46. | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | GLA; GALA | |||||||||||||
| External IDs | OMIM: 301500 MGI: 1347344 Homologene: 55441 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| 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] | ||||||||||||
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Overview
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]
Pathology
A deficiency is associated with Fabry's disease.
See also
References
Further reading
- Naumoff DG (2004). "Phylogenetic analysis of α-galactosidases of the GH27 family". Molecular Biology (Engl Transl) 38 (3): 388-399. PMID 15285616. PDF
- 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.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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 |
Sphingolipid metabolism enzymes |
|---|
| Arylsulfatase A - Ceramidase - Galactosidases (Alpha, Beta) - Galactosylceramidase - Glucocerebrosidase - Hexosaminidase - Sphingomyelin phosphodiesterase |
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
