Product Details

Purity

>85% (SDS-PAGE)

Target Names

CHCHD10

Uniprot No.

Q8WYQ3

Alternative Names

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

Species

Homo sapiens (Human)

Expression Region

17-142

Target Protein Sequence

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

Protein Length

Full Length of Mature Protein

Tag Info

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.

Form

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.

Buffer before Lyophilization

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

Reconstitution

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.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

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

Shelf Life

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.

Lead Time

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.

Notes

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.

Target Background

Function

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.

Gene References into Functions

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
CHCHD10 mutations have a role in cytoplasmic TDP-43 accumulation and synaptic integrity PMID: 28585542
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
Homozygous Pro96Thr mutation in CHCHD10 might be pathogenic to mitochondrial myopathy. PMID: 29519717
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
that CHCHD10 mutation was presented in different types of dementia PMID: 27578015
CHCHD10 gene mutation appears to be an uncommon cause of amyotrophic lateral sclerosis in Chinese populations. PMID: 27056076
Its mutation is not arelevant cause of Parkinson's disease in Italian population. PMID: 28108040
Its mutations are found in Chinese patients with amyotrophic lateral sclerosis. PMID: 28318595
No mutations were identified in CHCHD10 in ALS cases of Chinese ancestry. PMID: 27077676
Its mutations were seen in patients with ALS and frontotemporal dementia. PMID: 28069311
CHCHD10 is not a primary cause of familial amyotrophic lateral sclerosis in France. PMID: 27095681
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
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
CHCHD10 was found to not be a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. PMID: 26362910
CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. PMID: 26344877
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
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
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
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
Mitochondrial disease (CHCHD10 mutation) may be at the origins of some frontotemporal dementia and amyotrophic lateral sclerosis phenotypes. PMID: 24934289
CHCHD10 and GBAS are involved in oxidative phosphorylation; CHCHD10 plays role in complex IV activity. PMID: 20888800
Observational study of gene-disease association. (HuGE Navigator) PMID: 20877624
Functional annotation of CHCHD10 as mitochondrial protein with function related to cytochrome-c-oxidase (complex IV) activity. PMID: 20888800
Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086

Hide All

Involvement in disease

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

Subcellular Location

Mitochondrion intermembrane space.

Tissue Specificity

Ubiquitously expressed. Higher expression is observed in heart and liver.

Database Links

HGNC: 15559

OMIM: 615048

KEGG: hsa:400916

STRING: 9606.ENSP00000418428

UniGene: Hs.66915

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

Product Details

Customer Reviews and Q&A

Target Background

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