Search
C10orf2 (twinkle) gene
10q23.3-q24.3
Pathology:
- mutations are associated with autosomal dominant progressive external ophthalmoplegia
Related
twinkle protein, mitochondrial; T7 gp4-like protein with intramitochondrial nucleoid localization; T7-like mitochondrial DNA helicase; Progressive external ophthalmoplegia 1 protein (PEO1, C10orf2)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: twinkle protein, mitochondrial
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
Entrez Gene 56652
References
- Spebrink JN et al
Human mitochondrial DNA deletions associated with mutations in
the gene encoding Twinkle, a phage T7 gene 4-like protein
localized in mitochondria.
Nature Genetics 28:223, 2001
PMID: 11431692