Hexb blocking peptide

Hexb (S516) Peptide

Cat. Num. AAA3001871

• Gene Names: HEXB; ENC-1AS; HEL-248; HEL-S-111
• Applications: Blocking
• Purity: Synthetic peptide Hexb (S516). (Note: the amino acid sequence is proprietary).; The purity is >98%.
• Synonyms: Hexb; Hexb (S516) Peptide; ENC 1AS; HCC 7; HCC-7; HCC7; HEX B; HEXB; Hexosaminidase B (beta polypeptide); Hexosaminidase B; Hexosaminidase subunit B; HexosaminidaseB; Hexb blocking peptide

• Specificity: This peptide can be used with studies using MBS3001870 Hexb (S516) pAb.
• Purity/Purification: Synthetic peptide Hexb (S516). (Note: the amino acid sequence is proprietary).; The purity is >98%.
• Form/Format: 1 mg/ml in DI water.
• Sequence Length: 556

• Applicable Applications for Hexb blocking peptide: Blocking
• Preparation and Storage: Store at 4 degree C short term.; Aliquot and store at -20 degree C long term.; Avoid freeze-thaw cycles.

Related Product Information for Hexb blocking peptide

Hexosaminidase B (HEXB), also designated beta-hexosaminidase B, is a Hexosaminidase B (HEXB), also designated b-hexosaminidase B, is a tetramer of two b-A and two b-B chains and is found in the lysosomes of cells. Sandhoff disease (SD), also known as GM2-gangliosidosis type II, is caused by mutations in the HEXB gene that affect the b subunit. These mutations disrupt the activity of HEXB and HEXA, which prevents the breakdown of GM2 ganglioside, a fatty material found in the brain, therby rendering both the HEXA and HEXB enzymes deficient. SD is a rare autosomal recessive disorder characterized by an accumulation of GM2 ganglioside, which causes progressive destruction of the central nervous system. Sandhoff disease is similar to Tay-Sachs disease, which is caused by mutations in the HEXA gene, although SD is more severe.

NCBI and Uniprot Product Information

• NCBI GI #: 4504373
• NCBI GeneID: 3074
• NCBI Accession #: NP_000512.1
• NCBI GenBank Nucleotide #: NP_000512.1
• UniProt Accession #: P07686
• 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 - other glycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; EC 3.2.1.52; Carbohydrate Metabolism - amino sugar and nucleotide sugar

Chromosomal Location of Human Ortholog: 5q13

Cellular Component: lysosomal lumen; membrane; acrosome

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

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

Disease: Sandhoff Disease