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TMEM126A transmembrane protein 126A

Also known as: OPA7

Summary

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Associated conditions

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DescriptionTests
Optic atrophy 7
MedGen: C2751812OMIM: 612989GeneReviews: Not available
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Genomic context

Location:
11q14.1
Sequence:
Chromosome: 11; NC_000011.10 (85647919..85656553)
Total number of exons:
5

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