Recombinant Human Solute carrier family 25 member 46 (SLC25A46)

in vitro E.coli expression system

中文名稱：

人SLC25A46重組蛋白
貨號：

CSB-CF856895HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

in vitro E.coli expression system
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關產(chǎn)品
靶點詳情

產(chǎn)品詳情

基因名：

SLC25A46
Uniprot No.：

Q96AG3
別名：

SLC25A46; TB1; Solute carrier family 25 member 46
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區(qū)域：

1-418
氨基酸序列

MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEK SPPYGVPTTSTPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPC IVLRRQCQVNYHAQHYHLTPFTVINIMYSFNKTQGPRALWKGMGSTFIVQGVTLGAEGII SEFTPLPREVLHKWSPKQIGEHLLLKSLTYVVAMPFYSASLIETVQSEIIRDNTGILECV KEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISSVIQKFVLLILKRKTYNSHLA ESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVL PINTQYEGMRDCINTIRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNNI
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產(chǎn)品提供形式：

Liquid or 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.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

功能：

May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.
基因功能參考文獻：
1. This study reported a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46. PMID: 28558379
2. This study identified of a homozygous missense mutation c.1022T>C and a homozygous genomic deletion involving exon 1 in SLC25A46 encoding a mitochondrial protein leading to lethal pontocerebellar hypoplasia with apnoea and profound weakness. PMID: 27543974
3. These results show that SLC25A46 plays a role in a mitochondrial/endoplasmic reticulum pathway that facilitates lipid transfer, and link altered mitochondrial dynamics to early-onset neurodegenerative disease and cell fate decisions. PMID: 27390132
4. SLC25A46 is selectively degraded from the outer membrane independently of mitophagy and apoptosis, providing a framework for mechanistic studies in the proteolysis of outer membrane proteins PMID: 28057766
5. we showed that the Slc25a46 disruption caused a fusion/fission imbalance and an abnormal mitochondrial architecture that disturbed mitochondrial metabolism. These data extended the range of phenotypes associated with Slc25a46 dysfunction. Moreover, this Slc25a46 knock-out mouse model should be useful to further elucidate the role of SLC25A46 in mitochondrial dynamics PMID: 28376083
6. Our mutant mice provide a valid model for understanding the mechanistic basis of the complex SLC25A46-mediated pathologies, as well as for screening potential therapeutic interventions. PMID: 28376086
7. The rs10056340 single nucleotide polymorphism was significantly associated with atopic dermatitis. PMID: 26464032
8. Data indicate four families with recessive mutations in solute carrier family 25 member 46 protein (SLC25A46). PMID: 26168012
9. Rs17132261 was associated with left ventricular hypertrophy in type 2 diabetic patients. PMID: 23879873
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相關疾病：

Neuropathy, hereditary motor and sensory, 6B (HMSN6B)
亞細胞定位：

Mitochondrion outer membrane; Multi-pass membrane protein.
蛋白家族：

Mitochondrial carrier (TC 2.A.29) family
數(shù)據(jù)庫鏈接：

HGNC: 25198

OMIM: 610826

KEGG: hsa:91137

STRING: 9606.ENSP00000348211

UniGene: Hs.75639