Property Summary

NCBI Gene PubMed Count 13
PubMed Score 7.93
PubTator Score 8.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Synonym

Accession Q96HY7 Q68CU5 Q9BUM8 Q9HCE2
Symbols CMT2Q
AMOXAD

Gene

Gene RIF (7)

PMID Text
25860818 DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex
24076469 DHTKD1 contributes to mitochondrial biogenesis and function maintenance.
23141294 A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
23141293 DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKA      1 - 70
AKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQ     71 - 140
DEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSA    141 - 210
YSGITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLH    211 - 280
VTMLPNPSHLEAVNPVAVGKTRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSN    281 - 350
LPHFRIGGSVHLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFR    351 - 420
KDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLND    421 - 490
HLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVEVPRELQMHSHLLKTHVQSRM    491 - 560
EKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGTFSQRHAIVVCQETDDTYIPLNHMDPNQKGF    561 - 630
LEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHG    631 - 700
YDGAGPDHSSCRIERFLQMCDSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLL    701 - 770
RLPAAVSTLQEMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCP    771 - 840
FPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAVGIGTVHLHQH    841 - 910
EDILAKTFA                                                                 911 - 919
//

Text Mined References (17)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25860818 2015 Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24076469 2013 DHTKD1 is essential for mitochondrial biogenesis and function maintenance.
23141294 2012 A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
23141293 2012 DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
18004749 2008 Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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