Property Summary

NCBI Gene PubMed Count 34
Grant Count 188
R01 Count 94
Funding $29,876,859.96
PubMed Score 1224.30
PubTator Score 89.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.360 0.000
pancreatic ductal adenocarcinoma liver m... -1.649 0.001
pilocytic astrocytoma 1.100 0.000
lung carcinoma 1.100 0.000
ovarian cancer 1.400 0.000

Synonym

Accession P26440 B2RCV5 B3KVI7 J3KR54 Q53XZ9 Q96AF6 IVD
Symbols ACAD2

Gene

IVD

PANTHER Protein Class (2)

PDB

1IVH  

Gene RIF (11)

PMID Text
26018748 Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients
25450250 kinetics and ligand binding of isovaleryl-CoA dehydrogenase
23063737 study reports the first Saudi isovaleric acidemia patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population
22960500 A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates.
22350545 All were homozygous for a single c.367 G > A (p.G123R) mutation. Despite the genetic homogeneity of this South African group, the clinical presentation varied, ranging from mental handicap and episodes of metabolic derangement to an asymptomatic state
20877624 Observational study of gene-disease association. (HuGE Navigator)
20519759 A child with isovaleric acidemia was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. The former may be a founder mutation in the Chinese population.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
17576084 Mutations of isovaleryl-CoA dehydrogenase gene is associated with isovaleric acidemia
More...

AA Sequence

MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDR      1 - 70
SNEFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRN     71 - 140
GNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAK    141 - 210
TDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGL    211 - 280
DLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEG    281 - 350
HCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNA    351 - 420
DFH                                                                       421 - 423
//

Text Mined References (41)

PMID Year Title
26018748 2015 Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25450250 2015 Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23587913 2013 Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23063737 2013 Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
22960500 2012 Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
22350545 2012 Clinical variability of isovaleric acidemia in a genetically homogeneous population.
More...