Recombinant Human Protein C19orf12 (C19orf12)

in vitro E.coli expression system

中文名稱：

Recombinant Human Protein C19orf12(C19orf12)
貨號：

CSB-CF878882HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

C19orf12
Uniprot No.：

Q9NSK7
別名：

C19orf12; Protein C19orf12
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-152
氨基酸序列

MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPP GLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTA LVMGSEALQQQLLAMLVNYVTKELRAEIQYDD
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
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.

產品評價

靶點詳情

基因功能參考文獻：
1. This study showed that C19orf19 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
2. This study shown neurodegeneration associated with mutations in C19orf12 in the periventricular region. PMID: 28347614
3. The C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with mitochondrial membrane protein associated neurodegeneration. PMID: 28347615
4. Its mutations are not found in Iranian Parkinson's disease patients. PMID: 28365006
5. Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43). PMID: 26714052
6. Two Turkish sisters with Behr syndrome with homozygous C19ORF12 mutation PMID: 26187298
7. In several families with neurodegeneration with brain iron accumulation, novel mutations were found in the C19orf12 gene. PMID: 25962551
8. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. PMID: 23857908
9. Subsequent testing detected compound heterozygous mutations in c19orf12 consistent with mitochondrial membrane protein-associated neurodegeneration PMID: 23494994
10. Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, in patients with neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. PMID: 22584950
11. Mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from Neurodegeneration with brain iron accumulation. PMID: 22691760
12. This study identified 3 patients carrying novel mutations in the C19orf12 gene in patients with neurodegeneration with brain iron accumulation. PMID: 22704260
13. orphan mitochondrial protein c19orf12 absence causes a distinct clinical subtype of neurodegeneration with brain iron accumulation PMID: 21981780
顯示更多

收起更多
相關疾病：

Neurodegeneration with brain iron accumulation 4 (NBIA4); Spastic paraplegia 43, autosomal recessive (SPG43)
亞細胞定位：

Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol.
數據庫鏈接：

HGNC: 25443

OMIM: 614297

KEGG: hsa:83636

STRING: 9606.ENSP00000376103

UniGene: Hs.529094