AU-Specific RNA-Binding Protein

Alternative Names

  • AUH
  • 3-Methylglutaconyl-CoA Hydratase
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OMIM Number

600529

NCBI Gene ID

549

Uniprot ID

Q13825

Length

148,125 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Methylglutaconyl-CoA hydratase, mitochondrial

Molecular Mass

35609 Da

Amino Acid Count

339

Genomic Location

chr9:91,213,815-91,361,939

Gene Map Locus
9q22.31

Description

The AUH gene codes for the mitochondrial enzyme, 3-methyglutaconyl-CoA hydratase, which in turn, plays a major role in the metabolism of leucine. Specifically, this enzyme catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Defects in this gene and the resultant deficiency of the enzyme activity lead to the build-up of toxic metabolites of alternate leucine break-down pathways, such as 3 methylglutaconic acid.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001698.2:c.589C>T MoroccoChr9:91297993PathogenicPathogenic3-Methylglutaconic Aciduria, Type ING_008017.1:g.68932C>T; NM_001698.2:c.589C>T ; NP_001689.1:p.Arg197Ter1214346369056
NM_001698.2:c.80delGLebanonChr9:91361810PathogenicPathogenic3-Methylglutaconic Aciduria, Type ING_008017.1:g.5115delG ; NM_001698.2:c.80delG; NP_001689.1:p.Ser27Metfs7308803109058
NM_001698.3:c.830_831delUnited Arab EmiratesNC_000009.12:g.91220818TC[2]Likely Pathogenic3-Methylglutaconic Aciduria, Type INM_001698.3:c.830_831del; NP_001689.1:p.Glu277ValfsTer17778245303
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