GLB1

From Wikipedia, the free encyclopedia

Galactosidase, beta 1

Identifiers

External IDs

OMIM: 230500 MGI: 88151 HomoloGene: 47922

Gene ontology
Molecular Function:	• catalytic activity • beta-galactosidase activity • protein binding • hydrolase activity, acting on glycosyl bonds • cation binding
Cellular Component:	• lysosome • beta-galactosidase complex
Biological Process:	• carbohydrate metabolic process • metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000404 (mRNA)
NP_000395 (protein)

NM_009752 (mRNA)
NP_033882 (protein)

Location

Chr 3: 33.01 - 33.11 Mb

Chr 9: 114.25 - 114.32 Mb

Pubmed search

[1]

[2]

Galactosidase, beta 1, also known as GLB1, is a human beta-galactosidase.

[edit] Further reading

Hinek A (1997). "Biological roles of the non-integrin elastin/laminin receptor.". Biol. Chem. 377 (7-8): 471–80. PMID 8922281.
Kaye EM, Shalish C, Livermore J, et al. (1997). "beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.". J. Child Neurol. 12 (4): 242–7. PMID 9203065.
Callahan JW (1999). "Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.". Biochim. Biophys. Acta 1455 (2-3): 85–103. PMID 10571006.
Shows TB, Scrafford-Wolff L, Brown JA, Meisler M (1979). "Assignment of a beta-galactosidase gene (beta GALA) to chromosome 3 in man.". Cytogenet. Cell Genet. 22 (1-6): 219–22. PMID 110522.
Shows TB, Scrafford-Wolff LR, Brown JA, Meisler MH (1979). "GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA).". Somatic Cell Genet. 5 (2): 147–58. PMID 113895.
Yoshida K, Oshima A, Sakuraba H, et al. (1992). "GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.". Ann. Neurol. 31 (3): 328–32. doi:10.1002/ana.410310316. PMID 1353343.
Mosna G, Fattore S, Tubiello G, et al. (1993). "A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.". Hum. Genet. 90 (3): 247–50. PMID 1487238.
Oshima A, Yoshida K, Ishizaki A, et al. (1992). "GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.". Clin. Genet. 41 (5): 235–8. PMID 1606711.
Yoshida K, Oshima A, Shimmoto M, et al. (1991). "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.". Am. J. Hum. Genet. 49 (2): 435–42. PMID 1907800.
Nishimoto J, Nanba E, Inui K, et al. (1991). "GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.". Am. J. Hum. Genet. 49 (3): 566–74. PMID 1909089.
Morreau H, Bonten E, Zhou XY, D'Azzo A (1991). "Organization of the gene encoding human lysosomal beta-galactosidase.". DNA Cell Biol. 10 (7): 495–504. PMID 1909871.
Oshima A, Yoshida K, Shimmoto M, et al. (1991). "Human beta-galactosidase gene mutations in morquio B disease.". Am. J. Hum. Genet. 49 (5): 1091–3. PMID 1928092.
Yamamoto Y, Hake CA, Martin BM, et al. (1990). "Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.". DNA Cell Biol. 9 (2): 119–27. PMID 2111707.
Morreau H, Galjart NJ, Gillemans N, et al. (1990). "Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.". J. Biol. Chem. 264 (34): 20655–63. PMID 2511208.
Hoogeveen AT, Reuser AJ, Kroos M, Galjaard H (1986). "GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.". J. Biol. Chem. 261 (13): 5702–4. PMID 3084469.
Verheijen FW, Palmeri S, Galjaard H (1987). "Purification and partial characterization of lysosomal neuraminidase from human placenta.". Eur. J. Biochem. 162 (1): 63–7. PMID 3102233.
Oshima A, Tsuji A, Nagao Y, et al. (1988). "Cloning, sequencing, and expression of cDNA for human beta-galactosidase.". Biochem. Biophys. Res. Commun. 157 (1): 238–44. PMID 3143362.
Sips HJ, de Wit-Verbeek HA, de Wit J, et al. (1985). "The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.". Hum. Genet. 69 (4): 340–4. PMID 3921454.
Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985). "Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein.". Eur. J. Biochem. 149 (2): 315–21. PMID 3922758.
Goldman JE, Katz D, Rapin I, et al. (1981). "Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features.". Ann. Neurol. 9 (5): 465–75. doi:10.1002/ana.410090509. PMID 6791574.