Rabbit anti-Human HEXB Polyclonal Antibody | anti-HEXB antibody

HEXB Antibody (Center)

Cat. Num. AAA9216932

• Gene Names: HEXB; ENC-1AS; HEL-248; HEL-S-111
• Reactivity: Human
• Applications: Western Blot
• Synonyms: HEXB; Polyclonal Antibody; HEXB Antibody (Center); Purified Rabbit Polyclonal Antibody (Pab); Beta-hexosaminidase subunit beta; 3.2.1.52; Beta-N-acetylhexosaminidase subunit beta; Hexosaminidase subunit B; Cervical cancer proto-oncogene 7 protein; HCC-7; N-acetyl-beta-glucosaminidase subunit beta; Beta-hexosaminidase subunit beta chain B; Beta-hexosaminidase subunit beta chain A; anti-HEXB antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Sequence Length: 556

• Applicable Applications for anti-HEXB antibody: Western Blot (WB)
• Application Notes: WB~~1:2000
• Antigen Type: Synthesized Peptide
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Western Blot (WB)

(All lanes : Anti-HEXB Antibody (Center) at 1:2000 dilutionLane 1: Jurkat whole cell lysateLane 2: MCF-7 whole cell lysateLysates/proteins at 20 ug per lane. SecondaryGoat Anti-Rabbit IgG, (H+L), Peroxidase conjugated at 1/10000 dilution. Predicted band size : 63 kDaBlocking/Dilution buffer: 5% NFDM/TBST.)

Related Product Information for anti-HEXB antibody

Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.

Product Categories/Family for anti-HEXB antibody

Metabolism; Signal Transduction

References

Korneluk R.G.,et al.J. Biol. Chem. 261:8407-8413(1986). Neote K.,et al.Genomics 3:279-286(1988). Proia R.L.,et al.Proc. Natl. Acad. Sci. U.S.A. 85:1883-1887(1988). Kim J.W.,et al.Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases. Kalnine N.,et al.Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.

NCBI and Uniprot Product Information

• NCBI GI #: 4504373
• NCBI GeneID: 3074
• NCBI Accession #: NP_000512.1
• NCBI GenBank Nucleotide #: NM_000521.3
• UniProt Accession #: P07686
• Molecular Weight: 63,111 Da
• NCBI Official Full Name: beta-hexosaminidase subunit beta isoform 1 preproprotein
• NCBI Official Synonym Full Names: hexosaminidase subunit beta
• NCBI Official Symbol: HEXB
• NCBI Official Synonym Symbols: ENC-1AS; HEL-248; HEL-S-111
• NCBI Protein Information: beta-hexosaminidase subunit beta
• UniProt Protein Name: Beta-hexosaminidase subunit beta
• Protein Family: Beta-hexosaminidase
• UniProt Gene Name: HEXB
• UniProt Synonym Gene Names: Hexosaminidase subunit B; HCC-7
• UniProt Entry Name: HEXB_HUMAN

NCBI Description

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Uniprot Description

HEXB: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2); also known as Sandhoff disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2- gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. Belongs to the glycosyl hydrolase 20 family.

Protein type: Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Glycan Metabolism - other glycan degradation; Hydrolase; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Glycan Metabolism - glycosaminoglycan degradation; EC 3.2.1.52

Chromosomal Location of Human Ortholog: 5q13

Cellular Component: acrosome; azurophil granule; lysosomal lumen; membrane

Molecular Function: acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; protein heterodimerization activity; protein homodimerization activity

Biological Process: astrocyte cell migration; carbohydrate metabolic process; cellular calcium ion homeostasis; cellular protein metabolic process; chondroitin sulfate catabolic process; chondroitin sulfate metabolic process; ganglioside catabolic process; glycosaminoglycan metabolic process; glycosphingolipid metabolic process; hyaluronan catabolic process; hyaluronan metabolic process; keratan sulfate catabolic process; keratan sulfate metabolic process; locomotory behavior; lysosome organization and biogenesis; male courtship behavior; myelination; neuromuscular process controlling balance; oligosaccharide catabolic process; oogenesis; penetration of zona pellucida; phospholipid biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; regulation of cell shape; sensory perception of sound; sequestering of lipid; skeletal development; sphingolipid metabolic process

Disease: Sandhoff Disease