TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Am J Hum Genet
; 84(4): 493-8, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19327736
ABSTRACT
Nonsyndromic autosomal-recessive optic neuropathies are rare conditions of unknown genetic and molecular origin. Using an approach of whole-genome homozygosity mapping and positional cloning, we have identified the first gene, to our knowledge, responsible for this condition, TMEM126A, in a large multiplex inbred Algerian family and subsequently in three other families originating from the Maghreb. TMEM126A is conserved in higher eukaryotes and encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Atrofias Ópticas Hereditárias
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Proteínas Mitocondriais
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Mutação
Limite:
Animals
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Female
/
Humans
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Male
País como assunto:
Africa
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article