KEGG   VARIANT: 549v1
Entry
549v1                      Variant                                 
Name
AUH deficiency
Gene
AUH  AU RNA binding methylglutaconyl-CoA hydratase [KO:K05607]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600529
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00754  3-Methylglutaconic aciduria
Reference
PMID:12434311
  Authors
IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ
  Title
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
  Journal
Am J Hum Genet 71:1463-6 (2002)
DOI:10.1086/344712
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