AUH

Gene name: AU RNA binding protein/enoyl-CoA hydratase
OMIM ID: 600529
Chromosome location: 9q22.31

Mutations

Disease/Phenotype	3-methylglutaconic aciduria, type I
Reference transcript	NM_001698.2
DNA Change	c.589C>T
A.A. Change	p.Arg197X
Exon/Intron	exon 5
Mutation Type	substitution
Reference	IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ.3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet. 2002 Dec;71(6):1463-6.

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