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D2HGDH cdna clone

Scan QR to view Datasheet Catalog #    MBS1278912 D2HGDH cdna clone
Unit / Price
0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

D2HGDH, cDNA Clone

★Popular Item★
 Also Known As   

D2HGDH cDNA Clone

 Product Gene Name   

D2HGDH cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    atgctgggtg agatcctgtc tgcattcgag ttcatggatg ctgtgtgcat gcagctggtc gggcgccatc tccacctggc cagcccggtg caagagagtc cgttttacgt cctcatcgag acttcaggct ccaacgcagg ccatgacgct gagaagctgg gccacttcct ggagcacgcg ctgggctccg gcctggtgac cgatgggacc atggccaccg accagaggaa agtcaagatg ctgtgggccc tgagggaaag gatcacagag gcgctgagcc gggatggcta cgtgtacaag tacgacctct ccctccctgt ggagcggctc tacgacatcg tgactgacct gcgcgcccgc ctcggcccgc acgccaagca cgtggtgggc tatggccacc ttggagatgg taacctgcac ctcaatgtga cggcggaggc cttcagcccc tcgctcctgg ctgccctgga gccccacgtg tacgagtgga cggccgggca gcagggcagc gtcagcgcgg agcacggagt gggcttcagg aagagggacg tcctgggcta cagcaagcca ccgggggccc tgcagctcat gcagcagctc aaggccctgc tggaccccaa gggcatcctc aacccctaca agacgctgcc cagccaggcc tga
 OMIM    600721
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 Vector    pENTR223.1
 Clone Sequence Report    Provided with product shipment
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of D2HGDH 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 D2HGDH. It may not necessarily be applicable to this product.
 NCBI GI #    21594617
 NCBI GeneID    728294
 NCBI Accession #    BC031817 [Other Products]
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 UniProt Secondary Accession #    Q6IQ24; Q8N5Q8; B4E3L6; E7ENP2 [Other Products]
 UniProt Related Accession #    Q8N465 [Other Products]
 Molecular Weight    34,173 Da
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 NCBI Official Full Name    Homo sapiens D-2-hydroxyglutarate dehydrogenase, mRNA
 NCBI Official Synonym Full Names    D-2-hydroxyglutarate dehydrogenase
 NCBI Official Symbol    D2HGDH [Similar Products]
 NCBI Official Synonym Symbols   
D2HGD
[Similar Products]
 NCBI Protein Information    D-2-hydroxyglutarate dehydrogenase, mitochondrial
 UniProt Protein Name    D-2-hydroxyglutarate dehydrogenase, mitochondrial
 Protein Family    D-2-hydroxyglutarate dehydrogenase
 UniProt Gene Name    D2HGDH [Similar Products]
 UniProt Synonym Gene Names    D2HGD [Similar Products]
 UniProt Entry Name    D2HDH_HUMAN
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 NCBI Summary for D2HGDH    This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
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 UniProt Comments for D2HGDH    D2HGDH: an oxidoreductase that act on the CH-OH group of donor with other acceptors. Catalyzes the oxidation of D-2-hydroxyglutarate (2HG) to alpha-ketoglutarate. Belongs to the FAD-binding oxidoreductase/transferase type 4 family. 2 human isoforms produced by alternative splicing. Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria (D2HGA), a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.

Protein type: Mitochondrial; Oxidoreductase; EC 1.1.99.-

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: (R)-2-hydroxyglutarate dehydrogenase activity

Biological Process: 2-oxoglutarate metabolic process; cellular protein metabolic process; response to calcium ion; response to cobalt ion; response to magnesium ion; response to manganese ion; response to zinc ion

Disease: D-2-hydroxyglutaric Aciduria 1
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 Research Articles on D2HGDH    1. D2HGDH elevates alpha-KG levels via IDH2 expression modulation, influencing histone and DNA methylation, and HIF1alpha hydroxylation. D2HGDH mutants found in diffuse large B-cell lymphoma are enzymatically inert.
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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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Pathways associated with D2HGDH cdna cloneDiseases associated with D2HGDH cdna clone
 Products by Pathway  Pathway Diagram
 Interconversion Of 2-oxoglutarate And 2-hydroxyglutarate Pathway antibodies  Interconversion Of 2-oxoglutarate And 2-hydroxyglutarate Pathway Diagram
 Metabolism Pathway antibodies  Metabolism Pathway Diagram
 Pyruvate Metabolism And Citric Acid (TCA) Cycle Pathway antibodies  Pyruvate Metabolism And Citric Acid (TCA) Cycle Pathway Diagram
 The Citric Acid (TCA) Cycle And Respiratory Electron Transport Pathway antibodies  The Citric Acid (TCA) Cycle And Respiratory Electron Transport Pathway Diagram
 Disease Name  Pubmed Publications
 Amino Acid Metabolism, Inborn Errors Antibodies  >2 publications with D2HGDH and Amino Acid Metabolism, Inborn Errors
 D-2-HYDROXYGLUTARIC ACIDURIA 1 Antibodies  >1 publications with D2HGDH and D-2-HYDROXYGLUTARIC ACIDURIA 1
Organs/Tissues associated with D2HGDH cdna clone
 Organ/Tissue Name  Pubmed Publications
 Brain Antibodies  >3 publications with D2HGDH and Brain
 Blood Antibodies  >2 publications with D2HGDH and Blood
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