Anti-MMACHC Antibody (CAB10355)
- SKU:
- CAB10355
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-MMACHC Antibody |
抗体コード: | CAB10355 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 63-282 of human MMACHC (NP_056321.2). |
申し込み: | WB |
推奨希釈: | WB 1:500 - 1:2000 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | Raji, Jurkat, Mouse kidney, Rat brain |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 63-282 of human MMACHC (NP_056321.2). |
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: | LKPF LQSC HLRM LTDP VDQC VAYH LGRV RESL PELQ IEII ADYE VHPN RRPK ILAQ TAAH VAGA AYYY QRQD VEAD PWGN QRIS GVCI HPRF GGWF AIRG VVLL PGIE VPDL PPRK PHDC VPTR ADRI ALLE GFNF HWRD WTYR DAVT PQER YSEE QKAY FSTP PAQR LALL GLAQ PSEK PSSP SPDL PFTT PAPK KPGN PSRA RSWL SPRV SPPA SPGP |
遺伝子ID: | 25974 |
Uniprot: | Q9Y4U1 |
セルラーロケーション: | Cytoplasm |
計算された分子量: | 31kDa |
観察された分子量: | 32kDa |
同義語: | MMACHC, cblC |
バックグラウンド: | The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. |
UniProt Protein Function: | MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Belongs to the MMACHC family. |
UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis Chromosomal Location of Human Ortholog: 1p34.1 Cellular Component: cytoplasm; cytosol Molecular Function:cyanocobalamin reductase (cyanide-eliminating) activity; demethylase activity; glutathione binding; oxidoreductase activity; protein binding; protein homodimerization activity Biological Process: cobalamin biosynthetic process; cobalamin metabolic process; glutathione metabolic process Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type |
NCBI Summary: | The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] |
UniProt Code: | Q9Y4U1 |
NCBI GenInfo Identifier: | 85681045 |
NCBI Gene ID: | 25974 |
NCBI Accession: | Q9Y4U1.3 |
UniProt Secondary Accession: | Q9Y4U1,Q5T157, Q9BRQ7, |
UniProt Related Accession: | Q9Y4U1 |
Molecular Weight: | 32kDa |
NCBI Full Name: | Methylmalonic aciduria and homocystinuria type C protein |
NCBI Synonym Full Names: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
NCBI Official Symbol: | MMACHC |
NCBI Official Synonym Symbols: | cblC |
NCBI Protein Information: | methylmalonic aciduria and homocystinuria type C protein |
UniProt Protein Name: | Methylmalonic aciduria and homocystinuria type C protein |
UniProt Synonym Protein Names: | CblC |
Protein Family: | MMACHC-like protein |
UniProt Gene Name: | MMACHC |
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