Medical Knowledge Cockpit 3-methylglutaconic aciduria, type i

 

• Valine, leucine and isoleucine degradation
  Homo sapiens (human) one gene

  ---

 

OPA3

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene havebeen shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract.Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct2009)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane

Mutations in this gene havebeen shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract.Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct2009)

AUH

• Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase

OPA3

• Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews