TMEM126A

Overview

Gene (OMIM No.)
Function of gene/protein
  • Transmembrane protein 126A
  • Involved in mitochondrial function
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • No associated systemic features
Key investigations
  • Genetic testing: identification of TMEM126A mutations
  • Fundus examination: optic disc pallor
Management
  • Supportive care with visual aids
  • Regular ophthalmological follow-up
Therapies under research
  • None currently specified

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References

  1.  Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. The American Journal of Human Genetics. 2009 Apr 10;84(4):493-8.

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Updated on July 5, 2024
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