rs780504933

This variant is located in the MIPEP gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Inborn genetic diseases; not provided

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About MIPEP

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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