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Gene

IVD

isovaleryl-CoA dehydrogenase

Summary

Cytogenetic location
15q15.1
Coordinates
Chromosome 15: 40,405,795–40,421,308 (GRCh38)
Exons
12 exons across 15.5 kb
Protein
423 amino acids
Inheritance
Autosomal recessive
Also known as
ACAD2, IVDH
MANE Select transcript
ENST00000487418.8NM_002225.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Classic Organic Acidurias

    • Isovaleric AcidemiaAutosomal recessive

      Caused by variants in IVD, which can cause metabolic crises with a characteristic 'sweaty feet' odour, vomiting and lethargy.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows protein restriction, glycine and carnitine supplements and emergency care during illness.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How IVD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where IVD sits. IVD and 29 genes near it on chromosome 15, from 39,913,552 to 40,913,551.Chromosome 1515q15.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.340 Mb40.2 Mb40.4 Mb40.6 Mb40.8 MbGPR176: 39,799,003–39,920,976, reverse strandGPR176EIF2AK4: 39,934,062–40,036,656, forward strandEIF2AK4SRP14: 40,032,985–40,039,186, reverse strandSRP14BMF: 40,087,889–40,108,928, reverse strandBMFBUB1B: 40,160,984–40,221,137, forward strandBUB1BPAK6: 40,217,428–40,277,489, forward strandPAK6BUB1B-PAK6: 40,218,500–40,264,890, forward strandBUB1B-PAK6PLCB2: 40,278,176–40,307,965, reverse strandPLCB2ANKRD63: 40,278,372–40,283,064, reverse strandANKRD63INAFM2: 40,323,692–40,326,715, forward strandINAFM2CCDC9B: 40,331,452–40,340,954, reverse strandCCDC9BPHGR1: 40,351,025–40,357,622, forward strandPHGR1DISP2: 40,358,219–40,378,621, forward strandDISP2KNSTRN: 40,382,721–40,395,659, forward strandKNSTRNIVD: 40,405,795–40,421,308, forward strandIVDBAHD1: 40,436,611–40,468,242, forward strandBAHD1CHST14: 40,470,984–40,473,158, forward strandCHST14CCDC32: 40,519,519–40,565,054, reverse strandCCDC32RPUSD2: 40,569,289–40,575,171, forward strandRPUSD2KNL1: 40,594,002–40,664,342, forward strandKNL1RAD51: 40,694,774–40,732,344, forward strandRAD51RMDN3: 40,720,655–40,755,851, reverse strandRMDN3GCHFR: 40,764,043–40,767,872, forward strandGCHFRDNAJC17: 40,765,161–40,807,498, reverse strandDNAJC17C15orf62: 40,769,980–40,772,449, forward strandC15orf62ZFYVE19: 40,807,086–40,815,084, forward strandZFYVE19PPP1R14D: 40,814,731–40,829,395, reverse strandSPINT1: 40,843,513–40,860,274, forward strandSPINT1RHOV: 40,872,214–40,874,245, reverse strandRHOVVPS18: 40,894,412–40,903,975, forward strandVPS18Diagram of IVD: 12 exons on the forward strand of chromosome 15Exon 1: 11 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 4: 16 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 11 known disease-causing sitesExon 12: 16 known disease-causing sitesExon 1: 40,405,795–40,405,971, 177 basesExon 2: 40,407,636–40,407,725, 90 basesExon 3: 40,407,939–40,407,990, 52 basesExon 4: 40,410,628–40,410,797, 170 basesExon 5: 40,411,260–40,411,353, 94 basesExon 6: 40,411,555–40,411,691, 137 basesExon 7: 40,412,991–40,413,087, 97 basesExon 8: 40,414,889–40,414,982, 94 basesExon 9: 40,415,401–40,415,482, 82 basesExon 10: 40,416,078–40,416,182, 105 basesExon 11: 40,416,290–40,416,362, 73 basesExon 12: 40,418,130–40,421,308, 3,179 bases1246810125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.4 kb of the gene's 15.5 kb; 1,272 of those bases code for the protein.

How a genome test reads IVD

162

positions in IVD where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 15.5 kb of IVD, introns included, not only the 4.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). IVD gene: isovaleryl-CoA dehydrogenase. Retrieved 16 October 2026, from https://dantelabs.com/genes/ivd

Vancouver

Dante Labs. IVD gene: isovaleryl-CoA dehydrogenase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ivd

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