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LRPPRC 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.
Gene Name: | leucine-rich pentatricopeptide repeat containing |
Synonyms: | LRPPRC, gp130, LSFC, LRP130 |
Target Sequences: | NM_133259 NP_573566.2 P42704 |
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