Anti-HEXB Antibody (CAB1916)
- SKU:
- CAB1916
- Product type:
- Antibody
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Signal Transduction
Description
| 抗体名: | Anti-HEXB Antibody |
| 抗体コード: | CAB1916 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | IF |
| 反応性: | Mouse |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 277-556 of human HEXB (NP_000512.1). |
| 申し込み: | IF |
| 推奨希釈: | IF 1:50 - 1:200 |
| 反応性: | Mouse |
| ポジティブサンプル: |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 277-556 of human HEXB (NP_000512.1). |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | YARL RGIR VLPE FDTP GHTL SWGK GQKD LLTP CYSR QNKL DSFG PINP TLNT TYSF LTTF FKEI SEVF PDQF IHLG GDEV EFKC WESN PKIQ DFMR QKGF GTDF KKLE SFYI QKVL DIIA TINK GSIV WQEV FDDK AKLA PGTI VEVW KDSA YPEE LSRV TASG FPVI LSAP WYLD LISY GQDW RKYY KVEP LDFG GTQK QKQL FIGG EACL WGEY VDAT NLTP RLWP RASA VGER LWSS KDVR DMDD AYDR LTRH RCRM VERG IAAQ PLYA GYCN HENM |
| 遺伝子ID: | 3074 |
| Uniprot: | P07686 |
| セルラーロケーション: | Lysosome |
| 計算された分子量: | 63kDa |
| 観察された分子量: | Refer to figures |
| 同義語: | ENC-1AS, HEL-248, HEL-S-111, HEXB |
| バックグラウンド: | 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. |
| 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 |