• Gene id: 3712

Gene Summary

• Gene Symbol: IVD   Gene   UCSC   Ensembl
• Aliases: ACAD2
• Gene name: isovaleryl-CoA dehydrogenase
• Alternate names: isovaleryl-CoA dehydrogenase, mitochondrial, butyryl-CoA dehydrogenase, epididymis secretory sperm binding protein, isovaleryl Coenzyme A dehydrogenase,
• Gene location: 15q15.1 (58463703: 58515402)     Exons: 24     NC_000016.10
• Gene summary(Entrez): Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to
• OMIM: 607036

Protein Summary

• Protein general information: P26440  
  • Name: Isovaleryl CoA dehydrogenase, mitochondrial (IVD) (EC 1.3.8.4) (Butyryl CoA dehydrogenase) (EC 1.3.8.1)
  • Length: 426  
  • Mass: 46651
• Sequence:

  MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSN
  EFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKE
  KYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGI
  TAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQA
  VLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVA
  LDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  IPR034183  
  • Prosite: PS00072 PS00073
  • CDD: cd01156
  • PDB: 1IVH
  • PDBsum: 1IVH
  • STRING: ENSP00000418397
• Other Databases: GeneCards:  IVD  Malacards:  IVD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008470	isovaleryl-CoA dehydrogenase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006552	leucine catabolic process	IDA	biological process
GO:0008470	isovaleryl-CoA dehydrogenase activity	IDA	molecular function
GO:0009083	branched-chain amino acid catabolic process	IDA	biological process
GO:0042802	identical protein binding	ISS	molecular function
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008470	isovaleryl-CoA dehydrogenase activity	TAS	molecular function
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0008470	isovaleryl-CoA dehydrogenase activity	IEA	molecular function
GO:0004085	butyryl-CoA dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008470	isovaleryl-CoA dehydrogenase activity	IEA	molecular function
GO:0006552	leucine catabolic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0008470	isovaleryl-CoA dehydrogenase activity	IDA	molecular function
GO:0008470	isovaleryl-CoA dehydrogenase activity	ISS	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0006552	leucine catabolic process	ISS	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0006552	leucine catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Isovaleric acidemia	KEGG:H00173
Secondary hyperammonemia	KEGG:H01400
Isovaleric acidemia	KEGG:H00173
Amino acid metabolic disorder	PMID:2063866
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881