protein

Recombinant Human Hexosaminidase A

MBS146270

0.005 mg

140 USD

Recombinant Protein

Recombinant Human Hexosaminidase A

Hexosaminidase A

HEXA Human; Hexosaminidase A Human Recombinant; TSD; hexosaminidase A; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha

beta-hexosaminidase subunit alpha preproprotein; Beta-hexosaminidase subunit alpha; beta-hexosaminidase subunit alpha; N-acetyl-beta-glucosaminidase subunit alpha; beta-N-acetylhexosaminidase subunit alpha; hexosaminidase subunit A; hexosaminidase A (alpha polypeptide); Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha

HEXA

HEXA; HEXA; TSD; Hexosaminidase subunit A

HEXA_HUMAN

E Coli

529

MGSSHHHHHH SSGLVPRGSH MGSTLEKNVL VVSVVTPGCN QLPTLESVEN YTLTINDDQC LLLSETVWGA LRGLETFSQL VWKSAEGTFF INKTEIEDFP RFPHRGLLLD TSRHYLPLSS ILDTLDVMAY NKLNVFHWHL VDDPSFPYES FTFPELMRKG SYNPVTHIYT AQDVKEVIEY ARLRGIRVLA EFDTPGHTLS WGPGIPGLLT PCYSGSEPSG TFGPVNPSLN NTYEFMSTFF LEVSSVFPDF YLHLGGDEVD FTCWKSNPEI QDFMRKKGFG EDFKQLESFY IQTLLDIVSS YGKGYVVWQE VFDNKVKIQP DTIIQVWRED IPVNYMKELE LVTKAGFRAL LSAPWYLNRI SYGPDWKDFY VVEPLAFEGT PEQKALVIGG EACMWGEYVD NTNLVPRLWP RAGAVAERLW SNKLTSDLTF AYERLSHFRC ELLRRGVQAQ PLNVGFCEQE FEQT.

Greater than 85.0% as determined by SDS-PAGE.

HEXA protein solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.4M UREA and 10% glycerol. Sterile Filtered clear solution.

1mg/ml

Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.

ENZYMES; Enzymes

Description: HEXA Human Recombinant produced in E Coli is a single, non-glycosylated polypeptide chain containing 464 amino acids (89-529 a.a) and having a molecular mass of 52.9 kDa.HEXA is fused to a 23 amino acid His-tag at N-terminus. Purified by proprietary chromatographic techniques. Introduction: HEXA is the alpha subunit of the lysosomal enzyme beta-hexosaminidase which, combined with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules having N-acetyl hexosamines terminus. The two subunits composing Beta-hexosaminidase, alpha and beta, belong to the glycosyl hydrolases family and are encoded by distinct genes. Alpha subunit gene mutations can cause Tay-Sachs disease (GM2-gangliosidosis type I).

189181666

NP_000511.2

NM_000520.4

P06865

Amino Sugar And Nucleotide Sugar Metabolism Pathway (82979); Amino Sugar And Nucleotide Sugar Metabolism Pathway (350); CS/DS Degradation Pathway (645311); Chondroitin Sulfate/dermatan Sulfate Metabolism Pathway (645308); Defective B3GAT3 Causes JDSSDHD Pathway (1127588); Defective B4GALT1 Causes B4GALT1-CDG (CDG-2d) Pathway (1127592); Defective B4GALT7 Causes EDS, Progeroid Type Pathway (1127587); Defective CHST14 Causes EDS, Musculocontractural Type Pathway (1127591); Defective CHST3 Causes SEDCJD Pathway (1127590); Defective CHST6 Causes MCDC1 Pathway (1127593)

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]

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 - ganglio series; EC 3.2.1.52; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; Glycan Metabolism - other glycan degradation. Chromosomal Location of Human Ortholog: 15q24.1. Cellular Component: lysosomal lumen; membrane. Molecular Function: protein heterodimerization activity; beta-N-acetylhexosaminidase activity. Biological Process: keratan sulfate metabolic process; chondroitin sulfate metabolic process; sphingolipid metabolic process; glycosaminoglycan metabolic process; chondroitin sulfate catabolic process; carbohydrate metabolic process; pathogenesis; glycosphingolipid metabolic process; keratan sulfate catabolic process; hyaluronan metabolic process; hyaluronan catabolic process. Disease: Tay-sachs Disease

0.005 mg

140 USD

0.02 mg

205

1 mg

2665