LRPPRC, Official Symbol LRPPRCprovided by HGNC Official Full Name leucine rich pentatricopeptide repeat containingprovided by HGNC Primary source HGNC:HGNC:15714 See related Ensembl:ENSG00000138095 MIM:607544; AllianceGenome:HGNC:15714 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LSFC; GP130; LRP130; MC4DN5; CLONE-23970 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] Expression Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 26.0) and 25 other tissues See more Orthologs mouse all