Gene: LRPPRC

Alternate names for this Gene: CLONE-23970|GP130|LRP130|LSFC|MC4DN5

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: leucine rich pentatricopeptide repeat containing

Type of Gene: protein-coding

rs2955280 in LRPPRC gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs119466000 in LRPPRC gene and Leigh syndrome , French Canadian type PMID 12529507 2003 Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

PMID 21266382 2011 LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

PMID 17050673 2006 Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex.

PMID 29152527 2019 Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French-Canadian Type Outside of Québec.

rs1136998 in LRPPRC gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.