Mouse anti-Human GLB1 Monoclonal Antibody | anti-GLB1 antibody

GLB1 (Beta-galactosidase, Acid beta-galactosidase, Lactase, Elastin Receptor 1, ELNR1) (HRP)

Cat. Num. AAA6152686

• Gene Names: GLB1; EBP; ELNR1; MPS4B
• Reactivity: Human
• Applications: ELISA, Immunoprecipitation, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: GLB1; Monoclonal Antibody; GLB1 (Beta-galactosidase; Acid beta-galactosidase; Lactase; Elastin Receptor 1; ELNR1) (HRP); anti-GLB1 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG2a,k
• Clone Number: 6E7
• Specificity: Recognizes human GLB1.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with horseradish peroxidase (HRP).

• Applicable Applications for anti-GLB1 antibody: ELISA (EIA), Immunoprecipitation (IP), Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa578-677 from human GLB1 (NP_000395) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: KGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV
• Conjugate: HRP
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Note: Sodium azide is a potent inhibitor of peroxidase and should not be added to HRP conjugates. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot detection against Immunogen (36.74kD).)

Western Blot (WB)

(GLB1 monoclonal antibody, Western Blot analysis of GLB1 expression in HeLa.)

Western Blot (WB)

(Western Blot analysis of GLB1 expression in transfected 293T cell line by GLB1 monoclonal antibody. Lane 1: GLB1 transfected lysate (76.1kD). Lane 2: Non-transfected lysate.)

Immunoprecipitation (IP)

(Immunoprecipitation of GLB1 transfected lysate using GLB1 monoclonal antibody and Protein A Magnetic Bead and immunoblotted with GLB1 rabbit polyclonal antibody.)

Related Product Information for anti-GLB1 antibody

GLB1, a 60-76kD glycoprotein, is a lysosomal B-galactosidase that hydrolyzes the terminal B-galactose from ganglioside and keratan sulfate. Defects in this gene are the causes of lysosomal storage diseases for GM1-gangliosidosis and Morquio B syndrome. In GM1 gangliosidosis, GM1 ganglioside accumulates in the neurons of the central nervous system, because of the deficiency (0±3% of normal) of lysosomal B-galactosidase activity. GM1 gangliosidosis demonstrates varying degrees of clinical severity but is invariably fatal, and children with the most common and severe form of GM1 gangliosidosis usually die within 3 years of birth. Morquio B syndrome patients are neurologically normal, but display severe skeletal dysostosis multiplex because of an accumulation of keratan sulfate. More than 100 mutations have been identified for GLB1, which result in different residual activities of the mutant enzymes and a spectrum of symptoms in the two related diseases. In lysosome, the mature B-galactosidase protein associates with cathepsin A and neuraminidase 1 to form the lysosomal multienzyme complex. An alternative splicing at the RNA level of GLB1 results a catalytically inactive B-galactosidase (also called elastin-binding protein) that plays an important role in vascular development.

Product Categories/Family for anti-GLB1 antibody

Antibodies; Enzymes; Glycosidase

NCBI and Uniprot Product Information

• NCBI GI #: 119372308
• NCBI GeneID: 2720
• NCBI Accession #: NP_000395
• NCBI GenBank Nucleotide #: NM_000404
• UniProt Accession #: P16278; P16279; B2R7H8; B7Z6B0
• Molecular Weight: 74.6kDa (662aa) 70-100KDa (SDS-PAGE under reducing conditions.)
• NCBI Official Full Name: beta-galactosidase isoform a preproprotein
• NCBI Official Synonym Full Names: galactosidase beta 1
• NCBI Official Symbol: GLB1
• NCBI Official Synonym Symbols: EBP; ELNR1; MPS4B
• NCBI Protein Information: beta-galactosidase
• UniProt Protein Name: Beta-galactosidase
• Protein Family: Globulin
• UniProt Gene Name: GLB1
• UniProt Synonym Gene Names: ELNR1; Lactase
• UniProt Entry Name: BGAL_HUMAN

NCBI Description

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

Uniprot Description

GLB1: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. Defects in GLB1 are the cause of GM1-gangliosidosis type 1 (GM1G1); also known as infantile GM1- gangliosidosis. GM1-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1G1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. Defects in GLB1 are the cause of GM1-gangliosidosis type 2 (GM1G2); also known as late infantile/juvenile GM1- gangliosidosis. GM1G2 is characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. Defects in GLB1 are the cause of GM1-gangliosidosis type 3 (GM1G3); also known as adult or chronic GM1- gangliosidosis. GM1G3 is characterized by a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive. Defects in GLB1 are the cause of mucopolysaccharidosis type 4B (MPS4B); also known as Morquio syndrome B. MPS4B is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Belongs to the glycosyl hydrolase 35 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Glycan Metabolism - other glycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Glycan Metabolism - glycosaminoglycan degradation; Lipid Metabolism - sphingolipid; EC 3.2.1.23; Carbohydrate Metabolism - galactose; Hydrolase

Chromosomal Location of Human Ortholog: 3p21.33

Cellular Component: Golgi apparatus; lysosomal lumen; perinuclear region of cytoplasm; cytoplasm; vacuole

Molecular Function: protein binding; galactoside binding; beta-galactosidase activity

Biological Process: keratan sulfate metabolic process; sphingolipid metabolic process; dolichol-linked oligosaccharide biosynthetic process; glycosaminoglycan metabolic process; pathogenesis; post-translational protein modification; galactose catabolic process; glycosaminoglycan catabolic process; cellular protein metabolic process; carbohydrate metabolic process; protein amino acid N-linked glycosylation via asparagine; glycosphingolipid metabolic process; cellular carbohydrate metabolic process; keratan sulfate catabolic process

Disease: Gm1-gangliosidosis, Type Iii; Mucopolysaccharidosis Type Ivb; Gm1-gangliosidosis, Type Ii; Gm1-gangliosidosis, Type I