Anti-HEXB Antibody (CAB17493)

SKU:
CAB17493
€99 - €249

Description

Technical Manual

Anti-HEXB Antibody

Product Name:Anti-HEXB Antibody
Product SKU:CAB17493
Size:20uL, 50 uL
Host Species:Rabbit
Purification Method:Affinity purification
Isotype:IgG
Background:

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]

Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 277-556 of human HEXB (NP_000512.1).
Sequence:

YARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM

Gene ID:3074
Swiss Prot:P07686
Synonyms:ENC-1AS; HEL-248; HEL-S-111; HEXB
Calculated MW:63kDa
Observed MW:Refer to figures
Reactivity:Rat
Application:IF
Recommended Dilution:IF 1:50 - 1:200
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Application Key:Immunofluorescence 
Positive Samples:
Cellular Location:

Uniprot Information

UniProt Protein Function: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.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: 5q13.3

Cellular Component: acrosomal vesicle; azurophil granule; extracellular region; lysosomal lumen; membrane

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

Biological Process: astrocyte cell migration; cellular calcium ion homeostasis; cellular protein metabolic process; chondroitin sulfate catabolic process; ganglioside catabolic process; glycosphingolipid metabolic process; hyaluronan catabolic process; keratan sulfate catabolic process; lipid storage; locomotory behavior; lysosome organization and biogenesis; male courtship behavior; myelination; neuromuscular process controlling balance; neutrophil degranulation; 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; skeletal system development

Disease: Sandhoff Disease

NCBI Summary: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 Code:P07686
NCBI GenInfo Identifier:4504373
NCBI Gene ID:3074
NCBI Accession:NP_000512.1
UniProt Related Accession:P07686
Molecular Weight:
NCBI Full Name:beta-hexosaminidase subunit beta isoform 1 preproprotein
NCBI 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
UniProt Synonym Protein Names:Beta-N-acetylhexosaminidase subunit beta; Hexosaminidase subunit B
Protein Family:Beta-hexosaminidase
UniProt Gene Name:HEXB 
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Additional Information

Product type:
Antibody
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction
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