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

Mouse Monoclonal [clone AT20F1] (IgG2a,l) to Human HEXA

Cat. Num. AAA249150

• Gene Names: HEXA; TSD
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot, ELISA
• Purity: Protein A Purified
• Synonyms: HEXA; Monoclonal Antibody; Mouse Monoclonal [clone AT20F1] (IgG2a; l) to Human HEXA; Anti-HEXA Antibody (clone AT20F1) IHC-plus; Hexosaminidase subunit A; TSD; Human HEXA; anti-HEXA antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG2a,l
• Clone Number: AT20F1
• Specificity: Human HEXA
• Purity/Purification: Protein A Purified
• Form/Format: Supplied in PBS, pH 7.4, 10% glycerol, 0.02% sodium azide
• Concentration: 1 mg/ml (varies by lot)
• Sequence Length: 529

• Applicable Applications for anti-HEXA antibody: Immunohistochemistry (IHC - Paraffin), Western Blot (WB), ELISA (EIA)
• Application Notes: ELISA, IHC-P (10 ug/ml), WB (1:3000)
• Target Species: Human
• Immunogen Description: Recombinant human HEXA (89-529aa) purified from E Coli.
• Immunogen Type: Recombinant protein
• Immunogen: HEXA antibody was raised against recombinant human HEXA (89-529aa) purified from E Coli.
• Preparation and Storage: Can be stored at 4 degree C. For long term storage, aliquot and store at -20 degree C. Avoid repeated freezing and thawing cycles.

Immunohistochemistry (IHC)

(Anti-HEXA antibody IHC staining of human lung. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 10 ug/ml.)

Western Blot (WB)

(Western Blot: The cell lysates of MCF7 (40 ug) were resolved by SDS-PAGE, transferred to PVDF membrane and probed with anti-human HEXA antibody (1:3000). Proteins were visualized using a goat anti-mouse secondary antibody conjugated to HRP and an ECL detection system.)

NCBI and Uniprot Product Information

• NCBI GI #: 189181666
• NCBI GeneID: 3073
• NCBI Accession #: NP_000511.2
• NCBI GenBank Nucleotide #: NM_000520.4
• UniProt Accession #: P06865; Q53HS8; Q6AI32; B4DKE7; E7ENH7
• Molecular Weight: 19,326 Da
• NCBI Official Full Name: beta-hexosaminidase subunit alpha preproprotein
• NCBI Official Synonym Full Names: hexosaminidase A (alpha polypeptide)
• NCBI Official Symbol: HEXA
• NCBI Official Synonym Symbols: TSD
• NCBI Protein Information: beta-hexosaminidase subunit alpha; hexosaminidase subunit A; beta-N-acetylhexosaminidase subunit alpha; N-acetyl-beta-glucosaminidase subunit alpha
• UniProt Protein Name: Beta-hexosaminidase subunit alpha
• Protein Family: Hexamerin
• UniProt Gene Name: HEXA
• UniProt Synonym Gene Names: Hexosaminidase subunit A
• UniProt Entry Name: HEXA_HUMAN

NCBI Description

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). [provided by RefSeq, Jul 2009]

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

Chromosomal Location of Human Ortholog: 15q24.1

Cellular Component: lysosomal lumen; membrane

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

Biological Process: chondroitin sulfate metabolic process; keratan sulfate metabolic process; sphingolipid metabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; chondroitin sulfate catabolic process; pathogenesis; glycosphingolipid metabolic process; keratan sulfate catabolic process; hyaluronan metabolic process; hyaluronan catabolic process

Disease: Tay-sachs Disease