Sequence and structure of the human OXA1L gene and its upstream elements

Biochim Biophys Acta. 1997 Jul 10;1361(1):6-10. doi: 10.1016/s0925-4439(97)00031-8.


The genes encoding proteins involved in respiratory chain assembly represent candidate genes for nuclearly-encoded multiple respiratory chain deficiency. Using the long PCR amplification procedure, we have characterized the organization and complete sequence of OXA1L, a gene involved in the assembly of several complexes of the mitochondrial respiratory chain. The OXA1L gene (5 kb) is composed of 10 exons and 9 introns and contains a 24 N-terminal amino-acid stretch is characteristic of a mitochondrial presequence. The screening of OXA1L mutation in patients with multiple respiratory chain deficiency is now feasible.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cloning, Molecular
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / isolation & purification
  • Electron Transport / genetics*
  • Electron Transport Complex IV
  • Humans
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Polymerase Chain Reaction


  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • Nuclear Proteins
  • OXA1 protein
  • Electron Transport Complex IV

Associated data

  • GENBANK/AJ001981