Gene Symbol | LRPPRC |
Entrez Gene ID | 10128 |
Full Name | leucine rich pentatricopeptide repeat containing |
Synonyms | CLONE-23970,GP130,LRP130,LSFC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome, French-Canadian type, 220111 (3) |