Recombinant Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMADHC)

中文名稱：

人MMADHC重組蛋白
貨號：

CSB-YP875665HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人MMADHC重組蛋白
貨號：

CSB-EP875665HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人MMADHC重組蛋白
貨號：

CSB-EP875665HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人MMADHC重組蛋白
貨號：

CSB-BP875665HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人MMADHC重組蛋白
貨號：

CSB-MP875665HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

MMADHC
Uniprot No.：

Q9H3L0
別名：

C2orf25; cblD ; Chromosome 2 open reading frame 25; CL25022 ; Methylmalonic aciduria (cobalamin deficiency) cblD type; with homocystinuria ; Methylmalonic aciduria and homocystinuria type D protein; methylmalonic aciduria and homocystinuria type D protein; mitochondrial; mitochondrial; MMAD_HUMAN; Mmadhc; Protein C2orf25; mitochondrial
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

39-296
氨基酸序列

SD ESHVAAAPPD ICSRTVWPDE TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSLVHKTLP DVLAEPLSSE RHEFVMAQYV NEFQGNDAPV EQEINSAETY FESARVECAI QTCPELLRKD FESLFPEVAN GKLMILTVTQ KTKNDMTVWS EEVEIEREVL LEKFINGAKE ICYALRAEGY WADFIDPSSG LAFFGPYTNN TLFETDERYR HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATPDSHIM KKLSGN
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Involved in cobalamin metabolism and trafficking. Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl). Promotes oxidation of cob(II)alamin bound to MMACHC. The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine.
基因功能參考文獻：
1. analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway PMID: 26364851
2. specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis PMID: 24722857
3. MMADHC mutations are associated with methylmalonic aciduria and homocystinuria. PMID: 22156578
4. mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder PMID: 18385497
相關疾病：

Methylmalonic aciduria and homocystinuria type cblD (MMAHCD)
亞細胞定位：

Cytoplasm. Mitochondrion.
組織特異性：

Widely expressed at high levels.
數據庫鏈接：

HGNC: 25221

OMIM: 277410

KEGG: hsa:27249

STRING: 9606.ENSP00000301920

UniGene: Hs.5324