The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]

  • Protein folding
  • Protein targeting to mitochondrion
  • Visual perception
  • Protein transport
  • Protein import into mitochondrial matrix
  • 3-methylglutaconic aciduria, type v
  • 3-methylglutaconic aciduria
  • Barth syndrome
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
  • Cardiomyopathy, dilated, 1h

Gene Location