Alpha-galactosidase

Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the gene|GLA gene.

PBB_Summary
section_title =
summary_text =

Chemistry

This enzyme is a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose.

Pathology

A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [cite web | title = Entrez Gene: GLA galactosidase, alpha| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2717| accessdate = ]

ee also

* Beano (dietary supplement)
* Beta-galactosidase

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Naumoff DG |title=Phylogenetic analysis of α-galactosidases of the GH27 family |journal=Molecular Biology (Engl Transl) |volume=38 |issue=3 |pages=388–399 |year=2004 |pmid=15285616 |doi= [http://bioinform.genetika.ru/members/Naumoff/MB2004E.pdf PDF]
*cite journal | author=Eng CM, Desnick RJ |title=Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. |journal=Hum. Mutat. |volume=3 |issue= 2 |pages= 103–11 |year= 1994 |pmid= 7911050 |doi= 10.1002/humu.1380030204
*cite journal | author=Caillaud C, Poenaru L |title= [Gaucher's and Fabry's diseases: biochemical and genetic aspects] |journal=J. Soc. Biol. |volume=196 |issue= 2 |pages= 135–40 |year= 2002 |pmid= 12360742 |doi=
*cite journal | author=Germain DP |title= [Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects] |journal=J. Soc. Biol. |volume=196 |issue= 2 |pages= 161–73 |year= 2002 |pmid= 12360745 |doi=
*cite journal | author=Schaefer E, Mehta A, Gal A |title=Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. |journal=Acta paediatrica (Oslo, Norway : 1992). Supplement |volume=94 |issue= 447 |pages= 87–92; discussion 79 |year= 2005 |pmid= 15895718 |doi=
*cite journal | author=Levin M |title=Fabry disease. |journal=Drugs Today |volume=42 |issue= 1 |pages= 65–70 |year= 2006 |pmid= 16511611 |doi= 10.1358/dot.2006.42.1.957357
*cite journal | author=Lidove O, Joly D, Barbey F, "et al." |title=Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. |journal=Int. J. Clin. Pract. |volume=61 |issue= 2 |pages= 293–302 |year= 2007 |pmid= 17263716 |doi= 10.1111/j.1742-1241.2006.01237.x
*cite journal | author=Dean KJ, Sweeley CC |title=Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates. |journal=J. Biol. Chem. |volume=254 |issue= 20 |pages= 9994–10000 |year= 1979 |pmid= 39940 |doi=
*cite journal | author=Ishii S, Sakuraba H, Suzuki Y |title=Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. |journal=Hum. Genet. |volume=89 |issue= 1 |pages= 29–32 |year= 1992 |pmid= 1315715 |doi=
*cite journal | author=Ioannou YA, Bishop DF, Desnick RJ |title=Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. |journal=J. Cell Biol. |volume=119 |issue= 5 |pages= 1137–50 |year= 1992 |pmid= 1332979 |doi=
*cite journal | author=von Scheidt W, Eng CM, Fitzmaurice TF, "et al." |title=An atypical variant of Fabry's disease with manifestations confined to the myocardium. |journal=N. Engl. J. Med. |volume=324 |issue= 6 |pages= 395–9 |year= 1991 |pmid= 1846223 |doi=
*cite journal | author=Koide T, Ishiura M, Iwai K, "et al." |title=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. |journal=FEBS Lett. |volume=259 |issue= 2 |pages= 353–6 |year= 1990 |pmid= 2152885 |doi=
*cite journal | author=Kornreich R, Bishop DF, Desnick RJ |title=Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. |journal=J. Biol. Chem. |volume=265 |issue= 16 |pages= 9319–26 |year= 1990 |pmid= 2160973 |doi=
*cite journal | author=Sakuraba H, Oshima A, Fukuhara Y, "et al." |title=Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. |journal=Am. J. Hum. Genet. |volume=47 |issue= 5 |pages= 784–9 |year= 1990 |pmid= 2171331 |doi=
*cite journal | author=Bernstein HS, Bishop DF, Astrin KH, "et al." |title=Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. |journal=J. Clin. Invest. |volume=83 |issue= 4 |pages= 1390–9 |year= 1989 |pmid= 2539398 |doi=
*cite journal | author=Kornreich R, Desnick RJ, Bishop DF |title=Nucleotide sequence of the human alpha-galactosidase A gene. |journal=Nucleic Acids Res. |volume=17 |issue= 8 |pages= 3301–2 |year= 1989 |pmid= 2542896 |doi=
*cite journal | author=Bishop DF, Kornreich R, Desnick RJ |title=Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 11 |pages= 3903–7 |year= 1988 |pmid= 2836863 |doi=
*cite journal | author=Quinn M, Hantzopoulos P, Fidanza V, Calhoun DH |title=A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A. |journal=Gene |volume=58 |issue= 2-3 |pages= 177–88 |year= 1988 |pmid= 2892762 |doi=
*cite journal | author=Bishop DF, Calhoun DH, Bernstein HS, "et al." |title=Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 13 |pages= 4859–63 |year= 1986 |pmid= 3014515 |doi=
*cite journal | author=Lemansky P, Bishop DF, Desnick RJ, "et al." |title=Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. |journal=J. Biol. Chem. |volume=262 |issue= 5 |pages= 2062–5 |year= 1987 |pmid= 3029062 |doi=
*cite journal | author=Tsuji S, Martin BM, Kaslow DC, "et al." |title=Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. |journal=Eur. J. Biochem. |volume=165 |issue= 2 |pages= 275–80 |year= 1987 |pmid= 3036505 |doi=

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = no
update_citations = yes