≡

Galactosidase Beta (GLb)

[Edit]

GL-B; b-GAL; bGAL; ELNR1; EBP; GLB1; Lactase; Elastin Receptor 1,67kDa; Elastin Receptor 1(67kD); Acid Beta-Galactosidase

Galactosidase Beta (GLb)
CCC A196
HGNC 4298
MGI 88151
PubMed 11017877
RGD 1597145
UniProt P16278
Wiki GLB

Galactosidase Beta (GLb) is a hydrolase enzyme that catalyzes the hydrolysis of β-galactosides into monosaccharides. Substrates of different β-galactosidases include ganglioside GM1, lactosylceramides, lactose, and various glycoproteins. Alternate or nicknames are "beta-gal" or "β-gal". Lactase is often confused as an alternative name for β-galactosidase, but it is actually simply a sub-class of β-galactosidase.Galactosidase, beta 1 is a beta-galactosidase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates. GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers. β-galactosidase

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Hu01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA196Hu01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
MAA196Hu22 Monoclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
LAA196Hu71 Biotin-Linked Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC.
LAA196Hu81 FITC-Linked Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IF.
Assay Kits SEA196Hu ELISA Kit for Galactosidase Beta (GLb) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Mu01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
EPA196Mu61 Eukaryotic Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
APA196Mu61 Active Galactosidase Beta (GLb) Cell culture; Activity Assays.
Antibodies PAA196Mu01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Beta (GLb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Beta (GLb) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Ra01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA196Ra01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Beta (GLb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Beta (GLb) ELISA Kit Customized Service Offer

Organism species: Rhesus monkey (Simian)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Si01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA196Si01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Beta (GLb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Beta (GLb) ELISA Kit Customized Service Offer

Organism species: Canis familiaris; Canine (Dog)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Ca01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
APA196Ca62 Active Galactosidase Beta (GLb) Cell culture; Activity Assays.
Antibodies PAA196Ca01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Beta (GLb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Beta (GLb) ELISA Kit Customized Service Offer

Organism species: Bos taurus; Bovine (Cattle)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Bo01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA196Bo01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Beta (GLb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Beta (GLb) ELISA Kit Customized Service Offer

Organism species: Danio rerio (Zebrafish)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA196Fi01 Recombinant Galactosidase Beta (GLb) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA196Fi01 Polyclonal Antibody to Galactosidase Beta (GLb) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Galactosidase Beta (GLb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Galactosidase Beta (GLb) ELISA Kit Customized Service Offer
  1. "Cloning, sequencing, and expression of cDNA for human beta-galactosidase."Biochem. Biophys. Res. Commun. 157:238-244(1988) [PubMed] [Europe PMC] [Abstract]
  2. "Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein."J. Biol. Chem. 264:20655-20663(1989) [PubMed] [Europe PMC] [Abstract]
  3. "Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA."DNA Cell Biol. 9:119-127(1990) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase."J. Clin. Invest. 91:1198-1205(1993) [PubMed] [Europe PMC] [Abstract]
  8. "Biological roles of the non-integrin elastin/laminin receptor."Biol. Chem. 377:471-480(1996) [PubMed] [Europe PMC] [Abstract]
  9. "The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein."J. Biol. Chem. 273:6319-6326(1998) [PubMed] [Europe PMC] [Abstract]
  10. "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 1455:85-103(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase."Am. J. Hum. Genet. 67:23-36(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract]
  13. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  15. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  16. "Human beta-galactosidase gene mutations in morquio B disease."Am. J. Hum. Genet. 49:1091-1093(1991) [PubMed] [Europe PMC] [Abstract]
  17. "GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients."Am. J. Hum. Genet. 49:566-574(1991) [PubMed] [Europe PMC] [Abstract]
  18. "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases."Am. J. Hum. Genet. 49:435-442(1991) [PubMed] [Europe PMC] [Abstract]
  19. "A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient."Hum. Genet. 90:247-250(1992) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients."Am. J. Hum. Genet. 53:881-888(1993) [PubMed] [Europe PMC] [Abstract]
  21. "Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis."Am. J. Hum. Genet. 54:1004-1013(1994) [PubMed] [Europe PMC] [Abstract]
  22. "Novel missense mutations in beta-galactosidase that result in GM1-gangliosidosis."Am. J. Hum. Genet. 55:A223-A223(1994)
  23. "Clinical and molecular analysis of a Japanese boy with Morquio B disease."Clin. Genet. 48:103-108(1995) [PubMed] [Europe PMC] [Abstract]
  24. "Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease."(In) Scriver C.R., Beaudet A.L., Sly W.S., Valle D. (eds.);The metabolic and molecular bases of inherited disease, pp.2787-2823, McGraw-Hill Publishing Co., New York (1995)
  25. "Identification of new mutations in six Italian patients affected by a variant form of infantile GM1-gangliosidosis with severe cardiomyopathy."Am. J. Hum. Genet. 61:A258-A258(1997)
  26. "Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis."J. Child Neurol. 12:242-247(1997) [PubMed] [Europe PMC] [Abstract]
  27. "Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease."Biochim. Biophys. Acta 1588:247-253(2002) [PubMed] [Europe PMC] [Abstract]
  28. "Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis."Hum. Mutat. 13:401-409(1999) [PubMed] [Europe PMC] [Abstract]
  29. "Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis."Biochem. J. 348:621-632(2000) [PubMed] [Europe PMC] [Abstract]
  30. "Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement."Hum. Mutat. 15:354-366(2000) [PubMed] [Europe PMC] [Abstract]
  31. "Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B."Hum. Genet. 109:159-166(2001) [PubMed] [Europe PMC] [Abstract]
  32. "Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient."Hum. Genet. 113:44-50(2003) [PubMed] [Europe PMC] [Abstract]
  33. "Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis."Hum. Mutat. 24:352-352(2004) [PubMed] [Europe PMC] [Abstract]
  34. ErratumHum. Mutat. 24:536-537(2004)
  35. "Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis."Hum. Mutat. 25:285-292(2005) [PubMed] [Europe PMC] [Abstract]
  36. "Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis."J. Child Neurol. 20:57-60(2005) [PubMed] [Europe PMC] [Abstract]
  37. "Dystonia and parkinsonism in GM1 type 3 gangliosidosis."Mov. Disord. 20:1366-1369(2005) [PubMed] [Europe PMC] [Abstract]
  38. "Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies."Hum. Mutat. 27:1060-1060(2006) [PubMed] [Europe PMC] [Abstract]
  39. "Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies."J. Med. Invest. 53:103-112(2006) [PubMed] [Europe PMC] [Abstract]
  40. "Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America."Clin. Genet. 71:273-279(2007) [PubMed] [Europe PMC] [Abstract]
  41. "Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis."Clin. Genet. 72:109-111(2007) [PubMed] [Europe PMC] [Abstract]
  42. "GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase."Hum. Mutat. 30:1214-1221(2009) [PubMed] [Europe PMC] [Abstract]