[HTML][HTML] Sequence and structure of the human OXA1L gene and its upstream elements
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1997•Elsevier
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 …
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 …
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.
Elsevier