Recombinant Human Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (CHCHD10)

中文名稱：

Recombinant Human Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial(CHCHD10)
貨號：

CSB-YP823912HU
規格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial(CHCHD10)
貨號：

CSB-EP823912HU
規格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial(CHCHD10)
貨號：

CSB-EP823912HU-B
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：

Recombinant Human Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial(CHCHD10)
貨號：

CSB-BP823912HU
規格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial(CHCHD10)
貨號：

CSB-MP823912HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

CHCHD10
Uniprot No.：

Q8WYQ3
別名：

C22orf16; CHC10_HUMAN; CHCHD10; Chromosome 22 open reading frame 16; Coiled coil helix coiled coil helix domain containing 10; Coiled coil helix coiled coil helix domain containing protein 10 mitochondrial; Coiled-coil-helix-coiled-coil-helix domain-containing protein 10; MGC70831; mitochondrial; N27C7-4; OTTHUMP00000198408; OTTHUMP00000198409; Protein N27C7-4
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

17-142
氨基酸序列

AAPS AHPPAHPPPS AAAPAPAPSG QPGLMAQMAT TAAGVAVGSA VGHVMGSALT GAFSGGSSEP SQPAVQQAPT PAAPQPLQMG PCAYEIRQFL DCSTTQSDLS LCEGFSEALK QCKYYHGLSS LP
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：

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.
基因功能參考文獻：
1. results reveal that CHCHD10 positively regulates mitochondrial respiration and contributes to transcriptional repression of ORE-containing genes in the nucleus, and that genetic CHCHD10 variants are impaired in these activities. PMID: 29540477
2. CHCHD10 mutations have a role in cytoplasmic TDP-43 accumulation and synaptic integrity PMID: 28585542
3. In Finnish cohorts with motor neuron disease, heterozygous mutation c.197G>T p.G66V in CHCHD10 was detected in 23 patients. In two siblings with a cramping disorder and mitochondrial pathology, heterozygous c.100C>T p.P34S was detected. PMID: 27810918
4. Homozygous Pro96Thr mutation in CHCHD10 might be pathogenic to mitochondrial myopathy. PMID: 29519717
5. Screening of MAPT, GRN and CHCHD10 genes in Chinese patients with frontotemporal dementia (FTD) identified about 4.9% mutation carriers. Among the known FTD causative genes tested, MAPT and CHCHD10 play the most important roles in Chinese patients with sporadic FTD. PMID: 28462717
6. that CHCHD10 mutation was presented in different types of dementia PMID: 27578015
7. CHCHD10 gene mutation appears to be an uncommon cause of amyotrophic lateral sclerosis in Chinese populations. PMID: 27056076
8. Its mutation is not arelevant cause of Parkinson's disease in Italian population. PMID: 28108040
9. Its mutations are found in Chinese patients with amyotrophic lateral sclerosis. PMID: 28318595
10. No mutations were identified in CHCHD10 in ALS cases of Chinese ancestry. PMID: 27077676
11. Its mutations were seen in patients with ALS and frontotemporal dementia. PMID: 28069311
12. CHCHD10 is not a primary cause of familial amyotrophic lateral sclerosis in France. PMID: 27095681
13. Even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease. PMID: 26224640
14. Disassembly of the mitochondrial contact site and cristae organizing system complex secondary to CHCHD10 mutations leads to mitochondrial dysfunction including inhibition of apoptosis. PMID: 26666268
15. CHCHD10 was found to not be a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. PMID: 26362910
16. CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. PMID: 26344877
17. CHCHD10 mutations account for approximately 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs. PMID: 25726362
18. CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions. PMID: 25155093
19. findings identify a novel gene causing mitochondrial myopathy, thereby expanding the spectrum of mitochondrial myopathies caused by nuclear genes. Our findings also suggest a role for CHCHD10 in the morphologic remodeling of the mitochondria. PMID: 25193783
20. The results of this study support this estimation, and suggest that the real prevalence of CHCHD10-related disease in Finland is probably much higher. PMID: 25428574
21. Mitochondrial disease (CHCHD10 mutation) may be at the origins of some frontotemporal dementia and amyotrophic lateral sclerosis phenotypes. PMID: 24934289
22. CHCHD10 and GBAS are involved in oxidative phosphorylation; CHCHD10 plays role in complex IV activity. PMID: 20888800
23. Observational study of gene-disease association. (HuGE Navigator) PMID: 20877624
24. Functional annotation of CHCHD10 as mitochondrial protein with function related to cytochrome-c-oxidase (complex IV) activity. PMID: 20888800
25. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
26. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
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相關疾病：

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2); Spinal muscular atrophy, Jokela type (SMAJ); Myopathy, isolated mitochondrial, autosomal dominant (IMMD)
亞細胞定位：

Mitochondrion intermembrane space.
組織特異性：

Ubiquitously expressed. Higher expression is observed in heart and liver.
數據庫鏈接：

HGNC: 15559

OMIM: 615048

KEGG: hsa:400916

STRING: 9606.ENSP00000418428

UniGene: Hs.66915