Aliases for LRPPRC Gene
External Ids for LRPPRC Gene
Previous HGNC Symbols for LRPPRC Gene
Previous GeneCards Identifiers for LRPPRC Gene
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]
GeneCards Summary for LRPPRC Gene
LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing) is a Protein Coding gene. Diseases associated with LRPPRC include Leigh Syndrome, French Canadian Type and Leigh Syndrome. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding.
UniProtKB/Swiss-Prot for LRPPRC Gene
May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity).