Isovaleryl-CoA Dehydrogenase

Alternative Names

  • IVD

Associated Diseases

Isovaleric Acidemia
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OMIM Number

607036

NCBI Gene ID

3712

Uniprot ID

P26440

Length

30,464 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Isovaleryl-CoA Dehydrogenase, Mitochondrial

Molecular Mass

46651 Da

Amino Acid Count

462

Genomic Location

chr15:40,405,786-40,435,947

Gene Map Locus
15q15.1

Description

The enzyme isovaleryl-CoA dehydrogenase (IVD) catalyzes the third step in leucine catabolism. IVD belongs to the acyl-CoA dehydrogenase family and it is located in the mitochondrial matrix. The IVD gene has alternatively spliced transcript variants encoding different isoforms.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002225.4:c.1136_1138+4delUnited Arab EmiratesNC_000015.10:g.40416360_40416366delLikely PathogenicIsovaleric AcidemiaNG_011986.2:g.15876_15882del; NM_002225.4:c.1136_1138+4del; NP_002216.3:p.?
NM_002225.5:c.1172G>TSaudi Arabiachr15:40418163Likely PathogenicIsovaleric AcidemiaNG_011986.2:g.17679G>T; NM_002225.5:c.1172G>T; NP_002216.3:p.Gly391Val
NM_002225.5:c.1175G>AUnited Arab EmiratesNC_000015.10:g.40418166G>ALikely Pathogenic, PathogenicPathogenicIsovaleric AcidemiaNG_011986.2:g.17729G>A; NM_002225.5:c.1175G>A; NP_002216.3:p.Arg392His982218848623383
NM_002225.5:c.1184G>AUnited Arab EmiratesNC_000015.10:g.40418175G>ALikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicIsovaleric AcidemiaNG_011986.2:g.17691G>A; NM_002225.5:c.1184G>A; NP_002216.3:p.Arg395Gln1477527791529434
NM_002225.5:c.1222G>AEgyptNC_000015.10:g.40418213G>AUncertain SignificancePathogenicIsovaleric AcidemiaNG_011986.2:g.17729G>A; NM_002225.5:c.1222G>A; NP_002216.3:p.Glu408Lys7556932861444290
NM_002225.5:c.286+5G>TUnited Arab EmiratesNC_000015.10:g.40407995G>TLikely PathogenicLikely PathogenicIsovaleric AcidemiaNG_011986.2:g.7511G>T; NM_002225.5:c.286+5G>T; NP_002216.3:p.?8789097371176629
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