Property Summary

NCBI Gene PubMed Count 36
Grant Count 46
R01 Count 22
Funding $8,835,155.07
PubMed Score 250.57
PubTator Score 95.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.100 0.001
hereditary spastic paraplegia -1.032 0.007
ovarian cancer 1.800 0.000

Gene RIF (13)

PMID Text
25087164 We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis.
24935220 MiR-26a regulates glucose metabolism of colorectal cancer cells by direct targeting PDHX.
22766002 New mutation in PDHX gene found in two unrelated patients with Pyruvate dehydrogenase deficiency.
21194677 genetic association with systemic lupus erythematosus to a haplotype between PDHX and CD44 was established.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
17024456 PDHX-assisted photosensitization with rose Bengal induces structural and functional alteration of mitochondria in HeLa cells.
16629643 Despite the presence of antibodies reactive with PDC-E3BP in the majority of primary biliary cirrhosis (PBC) patients this self-protein is not a dominant T-cell autoantigen in PBC.
16566017 These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene.
16442803 A cluster of disease-causing E3 mutations located near the center of the E3BD/E3 interface prevents the efficient recruitment of these E3 variants by E3BP into the PDC, leading to the dysfunction of the PDC catalytic machine.
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AA Sequence

MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKILMPSLSPTMEE      1 - 70
GNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSKNIRLGSLIGLIVEEGEDWKH     71 - 140
VEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTLRFRLSPAARNILEKHSLDASQGTATGPRGI    141 - 210
FTKEDALKLVQLKQTGKITESRPTPAPTATPTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPA    211 - 280
SNIRRVIAKRLTESKSTVPHAYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSW    281 - 350
DGEGPKQLPFIDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNL    351 - 420
GMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDDELATRFLKSF    421 - 490
KANLENPIRLA                                                               491 - 501
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Text Mined References (41)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25525879 2014 Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity.
25416956 2014 A proteome-scale map of the human interactome network.
25087164 Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
24935220 2014 MicroRNA-26a regulates glucose metabolism by direct targeting PDHX in colorectal cancer cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22766002 2012 Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21269460 2011 Initial characterization of the human central proteome.
21194677 2011 Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
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