Acyl-CoA Dehydrogenase, Medium-Chain

Alternative Names

  • ACADM
  • Medium-Chain Acyl-CoA Dehydrogenase
  • MCAD
  • MCADH
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OMIM Number

607008

NCBI Gene ID

34

Uniprot ID

P11310

Length

63,229 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Medium-chain specific acyl-CoA dehydrogenase, mitochondrial

Molecular Mass

46588 Da

Amino Acid Count

421

Genomic Location

chr1:75,724,347-75,787,575

Gene Map Locus
1p31.1

Description

ACADM gene encodes medium-chain acyl-CoA dehydrogenase (MCAD) enzyme, which is a critical component of the mitochondrial fatty acid beta-oxidation pathway. Mutations in ACADM is associated with medium-chain acyl-CoA dehydrogenase deficiency.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000016.6:c.347G>A Saudi Arabiachr1:75733588Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofNG_007045.2:g.14231G>A; NM_000016.6:c.347G>A ; NP_000007.1:p.Cys116Tyr875989859226068
NM_000016.6:c.362C>TSaudi Arabia; United A...NC_000001.11:g.75733603C>TPathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofNG_007045.2:g.14246C>T; NM_000016.6:c.362C>T ; NP_000007.1:p.Thr121Ile1214342833599
NM_000016.6:c.431_434delPalestineNC_000001.11:g.75734834_75734837delPathogenicPathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofNG_007045.1:g.15477_15480del; NM_000016.6:c.431_434del; NP_000007.1:p.Lys144IlefsTer51057517356371546
NM_000016.6:c.985A>G Palestine; United Arab...NC_000001.11:g.75761161A>GLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofNG_007045.2:g.41804A>G; NM_000016.6:c.985A>G ; NP_000007.1:p.Lys329Glu779312343586
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