InterPro domain: IPR010754

General Information

  • Identifier IPR010754
  • Description Optic atrophy 3-like
  • Number of genes 254
  • Gene duplication stats Loading...

Abstract

OPA3 deficiency causes type III 3-methylglutaconic aciduria (MGA) in humans. This disease manifests with early bilateral optic atrophy, spasticity, extrapyramidal dysfunction, ataxia, and cognitive deficits, but normal longevity [ 1 ].

This family consists of several optic atrophy 3 (OPA3) proteins and related proteins from other eukaryotic species, the function is unknown.


1. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol. Genet. Metab. 76, 201-6

Species distribution

Gene table