TMEM126A
Gene name: transmembrane protein 126AOMIM ID: 612988
Chromosome location: 11q14.1-q2
Mutations
| Disease/Phenotype | Optic atrophy 7 |
|---|---|
| Reference transcript | NM_032273.3 |
| DNA Change | c.163C>T |
| A.A. Change | p.Arg55X |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM.TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet. 2009 Apr;84(4):493-8. |
| Disease/Phenotype | Optic atrophy 7 |
|---|---|
| Reference transcript | NM_032273.3 |
| DNA Change | c.163C>T |
| A.A. Change | p.Arg55X |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | D?sir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M.TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. Mol Vis. 2012;18:1849-57. |