Anti-MMADHC Antibody (CAB15820)
- SKU:
- CAB15820
- 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-MMADHC Antibody |
| 抗体コード: | CAB15820 |
| 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 1-296 of human MMADHC (NP_056517.1). |
| 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: | 293T, NIH/3T3, HeLa, MCF7 |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-296 of human MMADHC (NP_056517.1). |
| 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: | MANV LCNR ARLV SYLP GFCS LVKR VVNP KAFS TAGS SGSD ESHV AAAP PDIC SRTV WPDE TMGP FGPQ DQRF QLPG NIGF DCHL NGTA SQKK SLVH KTLP DVLA EPLS SERH EFVM AQYV NEFQ GNDA PVEQ EINS AETY FESA RVEC AIQT CPEL LRKD FESL FPEV ANGK LMIL TVTQ KTKN DMTV WSEE VEIE REVL LEKF INGA KEIC YALR AEGY WADF IDPS SGLA FFGP YTNN TLFE TDER YRHL GFSV DDLG CCKV IRHS LWGT HVVV GSIF TNAT PDSH IMKK LSGN |
| 遺伝子ID: | 27249 |
| Uniprot: | Q9H3L0 |
| セルラーロケーション: | Cytoplasm, Mitochondrion |
| 計算された分子量: | 32kDa |
| 観察された分子量: | 33kDa |
| 同義語: | MMADHC, C2orf25, CL25022, cblD, cblD type |
| バックグラウンド: | This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X. |
| UniProt Protein Function: | MMADHC: Involved in cobalamin metabolism. Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 2q23.2 Cellular Component: cytosol Biological Process: cobalamin metabolic process Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type |
| NCBI Summary: | This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] |
| UniProt Code: | Q9H3L0 |
| NCBI GenInfo Identifier: | 68565296 |
| NCBI Gene ID: | 27249 |
| NCBI Accession: | Q9H3L0.2 |
| UniProt Secondary Accession: | Q9H3L0,O95891, B2R895, D3DP91, |
| UniProt Related Accession: | Q9H3L0 |
| Molecular Weight: | 32,940 Da |
| NCBI Full Name: | Methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
| NCBI Synonym Full Names: | methylmalonic aciduria and homocystinuria, cblD type |
| NCBI Official Symbol: | MMADHC |
| NCBI Official Synonym Symbols: | cblD; C2orf25; CL25022 |
| NCBI Protein Information: | methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
| UniProt Protein Name: | Methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
| Protein Family: | Methylmalonic aciduria and homocystinuria |
| UniProt Gene Name: | MMADHC |
| UniProt Entry Name: | MMAD_HUMAN |
 | Western blot analysis of extracts of various cell lines, using MMADHC antibody (CAB15820) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 10s. |
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