Recombinant Human GLB1, His-tagged

• Cat.No.: GLB1-13292H
• Product Overview: Recombinant Human GLB1 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• Description: GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]
• Source: E.coli
• Species: Human
• Tag: His
• Protein length: 329-677a.a.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.

Gene Information

• Gene Name: GLB1 galactosidase, beta 1 [ Homo sapiens ]
• Official Symbol: GLB1
• Synonyms: GLB1; galactosidase, beta 1; elastin receptor 1 (67kD) , elastin receptor 1, 67kDa , ELNR1; beta-galactosidase; EBP; lactase; acid beta-galactosidase; elastin receptor 1, 67kDa; ELNR1; MPS4B
• Gene ID: 2720
• mRNA Refseq: NM_000404
• Protein Refseq: NP_000395
• MIM: 611458
• UniProt ID: P16278
• Chromosome Location: 3p22.3
• Pathway: Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Glycosaminoglycan degradation, organism-specific biosystem; Glycosaminoglycan degradation, conserved biosystem; Glycosphingolipid biosynthesis - ganglio series, organism-specific biosystem; Glycosphingolipid biosynthesis - ganglio series, conserved biosystem; Glycosphingolipid metabolism, organism-specific biosystem
• Function: beta-galactosidase activity; cation binding; galactoside binding; hydrolase activity, hydrolyzing O-glycosyl compounds; protein binding

Reviews

12/10/2021

Their support has been invaluable in troubleshooting and providing efficient solutions, enhancing the overall efficiency and productivity of my experiments.

04/03/2019

Its versatility allows for exploring its various roles and functions, shedding light on its significance in crucial biochemical pathways and cellular processes.

05/16/2016

Their knowledgeable and responsive team has consistently demonstrated their ability to address any concerns or challenges I have encountered along the way.

Q&As

How does GLB1 protein deficiency impact the nervous system?

GLB1 deficiency can lead to neurodegeneration, causing progressive deterioration of the nervous system.

What are the different subtypes of GLB1 deficiency?

There are three subtypes: GM1 gangliosidosis, mucopolysaccharidosis IVB, and combined GM1 gangliosidosis and mucopolysaccharidosis IVB.

Can GLB1 deficiency be managed through dietary interventions?

While dietary interventions may help manage certain symptoms, they do not address the underlying cause of the deficiency.

What are the symptoms of GLB1 deficiency?

Symptoms may include developmental delay, skeletal abnormalities, vision and hearing loss, and neurological deterioration.

Can GLB1 deficiency be detected prenatally?

Yes, prenatal testing through genetic analysis of amniotic fluid or chorionic villus sampling can detect GLB1 deficiency.