Mouse anti-Human, Rat HEXA Monoclonal Antibody | anti-HEXA antibody

Anti-HEXA Mouse mAb

Cat. Num. AAA476280

• Gene Names: HEXA; TSD
• Reactivity: Human, Rat
• Applications: Western Blot
• Synonyms: HEXA; Monoclonal Antibody; Anti-HEXA Mouse mAb; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha; anti-HEXA antibody

• Host: Mouse
• Reactivity: Human, Rat
• Clonality: Monoclonal
• Isotype: IgG2b
• Clone Number: 1G3-E4-C10
• Form/Format: Purified antibody in PBS with 0.05% sodium azide
• Sequence Length: 529

• Applicable Applications for anti-HEXA antibody: Western Blot (WB)
• Immunogen: Purified recombinant fragment of human HEXA expressed in E Coli.
• Sequence Similarities: Belongs to the glycosyl hydrolase 20 family.
• Subunit Structure: There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.
• Subcellular Location: Lysosome

Western Blot (WB)

(Western blot detection of HEXA in Jurkat, MCF7 and C6 cell lysates using HEXA mouse mAb (1:2000 diluted).Predicted band size:61KDa.Observed band size:50KDa.)

Western Blot (WB)

(Western blot analysis using HEXA mouse mAb against L1210 (1), and HL7702 (2) cell lysate.)

Flow Cytometry (FC/FACS)

(Flow cytometric analysis of HeLa cells using HEXA mouse mAb (green) and negative control (red).)

Related Product Information for anti-HEXA antibody

Entrez Summary: This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).
UniPort Summary Function: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.

NCBI and Uniprot Product Information

• NCBI GI #: 189181666
• NCBI GeneID: 3073
• NCBI Accession #: NP_000511.2
• NCBI GenBank Nucleotide #: NM_000520.5
• UniProt Accession #: P06865; Q53HS8; Q6AI32; B4DKE7; E7ENH7
• Molecular Weight: 50kDa
• NCBI Official Full Name: beta-hexosaminidase subunit alpha isoform 2 preproprotein
• NCBI Official Synonym Full Names: hexosaminidase subunit alpha
• NCBI Official Symbol: HEXA
• NCBI Official Synonym Symbols: TSD
• NCBI Protein Information: beta-hexosaminidase subunit alpha
• UniProt Protein Name: Beta-hexosaminidase subunit alpha
• Protein Family: Hexamerin
• UniProt Gene Name: HEXA
• UniProt Synonym Gene Names: Hexosaminidase subunit A

NCBI Description

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

Uniprot Description

HEXA: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1); also known as Tay-Sachs disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset). Belongs to the glycosyl hydrolase 20 family.

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: 15q23

Cellular Component: azurophil granule; lysosomal lumen; membrane

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

Biological Process: chondroitin sulfate catabolic process; glycosaminoglycan biosynthetic process; glycosphingolipid metabolic process; hyaluronan catabolic process; keratan sulfate catabolic process

Disease: Tay-sachs Disease