rs949524933

This variant is located in the LRPPRC gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

About LRPPRC

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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