Property Summary

NCBI Gene PubMed Count 49
Grant Count 54
R01 Count 26
Funding $44,626,293.65
PubMed Score 303.88
PubTator Score 186.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.273 0.000
pancreatic ductal adenocarcinoma liver m... -1.124 0.048

Gene RIF (23)

PMID Text
26071121 Mutations in GCDH gene observed in the present study indicate genetic heterogeneity in GCDH gene among South Indian population. No definite genotype-phenotype correlations were observed.
25863083 Point mutation of GCDH gene is associated with glutaric academia type I.
25297592 Data indicate a homozygous c.1244-2A> C mutation of the glutaryl-CoA dehydrogenase (GCDH) gene in both patients.
24973495 2 novel mutations, p.Glu64Asp and p.Gly268Val, account for majority of disease alleles in Cypriot patients with Glutaric aciduria type I; a founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on place of origin of mutation carriers
24332224 29 GCDH mutations were identified in 23 glutaric aciduria type 1 patients, including 11 novel mutations
23225040 Identification of GCDH gene mutations in four patients with glutaric academia type I.
22231382 These cells displayed decreased levels of GCDH tetramer.
21968293 physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss
21912879 A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13.
21811973 GCDH gene mutations are identified in 8 patients with glutaric aciduria type I
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AA Sequence

MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQLTTDEILIRDT      1 - 70
FRTYCQERLMPRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSSVAYGLLARELERVDSGYRSA     71 - 140
MSVQSSLVMHPIYAYGSEEQRQKYLPQLAKGELLGCFGLTEPNSGSDPSSMETRAHYNSSNKSYTLNGTK    141 - 210
TWITNSPMADLFVVWARCEDGCIRGFLLEKGMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGA    211 - 280
SSLGGPFGCLNNARYGIAWGVLGASEFCLHTARQYALDRMQFGVPLARNQLIQKKLADMLTEITLGLHAC    281 - 350
LQLGRLKDQDKAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHVIRHAMNLEAVNTYEGTHDIH    351 - 420
ALILGRAITGIQAFTASK                                                        421 - 438
//

Text Mined References (55)

PMID Year Title
26071121 2016 Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25863083 2015 [Mutation analysis of GCDH gene in four patients with glutaric academia type I].
25416781 2015 Human METTL20 is a mitochondrial lysine methyltransferase that targets the ? subunit of electron transfer flavoprotein (ETF?) and modulates its activity.
25297592 2014 [Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].
25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
24973495 2014 Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24332224 2014 Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
More...