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MPV17, cDNA Clone

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產(chǎn)品名稱: MPV17, cDNA Clone
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MPV17, cDNA Clone


MPV17, cDNA Clone  的詳細(xì)介紹
Product Name

MPV17, cDNA Clone

Full Product Name

MPV17 cDNA Clone

Product Gene Name

MPV17 cdna clone

[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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Sequence
atggcactct ggcgggcata ccagcgggcc ctggccgctc acccgtggaa agtacaggtc ctgacagctg ggtccctgat gggcctgggt gacattatct cacagcagct ggtggagagg cggggtctgc aggaacacca gagaggccgg actctgacca tggtgtccct gggctgtggc tttgtgggcc ctgtggtagg aggctggtac aaggttttgg atcggttcat ccctggcacc accaaagtgg atgcactgaa gaagatgttg ttggatcagg ggggctttgc cccgtgtttt ctaggctgct ttctcccact ggtaggggca cttaatggac tgtcagccca ggacaactgg gccaaactac agcgggatta tcctgatgcc cttatcacca actactatct atggcctgct gtgcagttag ccaacttcta cctggtcccc cttcattaca ggttggccgt tgtccaatgt gttgctgtta tctggaactc ctacctgtcc tggaaggcac atcggctcta a
OMIM
137960
Vector
pENTR223.1 or pUC
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of MPV17 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for MPV17. It may not necessarily be applicable to this product.
NCBI GI #
34783089
NCBI GeneID
4358
NCBI Accession #
BC001115 [Other Products]
UniProt Secondary Accession #
Q53SY2; Q96B08; D6W555[Other Products]
UniProt Related Accession #
P39210; AAB25210[Other Products]
Molecular Weight
19,733 Da
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NCBI Official Full Name
Homo sapiens MpV17 mitochondrial inner membrane protein, mRNA
NCBI Official Synonym Full Names
MPV17, mitochondrial inner membrane protein
NCBI Official Symbol
MPV17??[Similar Products]
NCBI Official Synonym Symbols
SYM1; MTDPS6
??[Similar Products]
NCBI Protein Information
protein Mpv17
UniProt Protein Name
Protein Mpv17
Protein Family
Mpv17-like protein
UniProt Gene Name
MPV17??[Similar Products]
UniProt Entry Name
MPV17_HUMAN
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NCBI Summary for MPV17
This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]
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UniProt Comments for MPV17
MPV17: Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. Defects in MPV17 are the cause of mitochondrial DNA depletion syndrome type 6 (MTDPS6). A disease characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Belongs to the peroxisomal membrane protein PXMP2/4 family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial

Chromosomal Location of Human Ortholog: 2p23.3

Cellular Component: mitochondrial inner membrane; mitochondrion; peroxisome

Biological Process: glomerular basement membrane development; homeostatic process; inner ear development; mitochondrial genome maintenance

Disease: Mitochondrial Dna Depletion Syndrome 6 (hepatocerebral Type)
Research Articles on MPV17
1. We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy.
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Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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