IVD (isovaleryl-CoA dehydrogenase)

2014-11-01  

Identity

HGNC
LOCATION
15q15.1
LOCUSID
ALIAS
ACAD2,IVDH
FUSION GENES

Other Information

Locus ID:

NCBI: 3712
MIM: 607036
HGNC: 6186
Ensembl: ENSG00000128928

Variants:

dbSNP: 3712
ClinVar: 3712
TCGA: ENSG00000128928
COSMIC: IVD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128928ENST00000466756H0YNT5
ENSG00000128928ENST00000473112H7C4G6
ENSG00000128928ENST00000479013A0A0S2Z4K7
ENSG00000128928ENST00000481262H0YKV0
ENSG00000128928ENST00000487418A0A0A0MT83
ENSG00000128928ENST00000491554H0YLC3
ENSG00000128928ENST00000558610H0YN10
ENSG00000128928ENST00000559575H0YNA4
ENSG00000128928ENST00000610693A0A087WVD3
ENSG00000128928ENST00000650656P26440
ENSG00000128928ENST00000651168P26440

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
223505452012Clinical variability of isovaleric acidemia in a genetically homogeneous population.7
175760842007Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.5
229605002012Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.4
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3
254502502015Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.2
260187482015Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.2
163761322006Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.1
230637372013Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.1

Citation

Dessen P

IVD (isovaleryl-CoA dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64701/ivd