Symbol: Name: ID: |
LRPPRC leucine-rich PPR-motif containing GFS:4876 |
Gene name: | LRPPRC |
Chromosome: | 2p21 |
Previous Symbols: | LSFC |
Previous Names: | Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) |
Aliases: | GP130, LRP130 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1919666 | Rat Genome Database ID: | RGD:1306575 |
HGNC ID: | HGNC:15714 | RefSeq IDs: | NM_133259 |
Entrez Gene ID: | 10128 | Ensembl Gene ID: | ENSG00000138095 |
VEGA IDs: | OTTHUMG00000152782 | UniProt ID: | P42704 |
UCSC ID: | uc002rtr.2 | OMIM ID: | 607544 |
Pubmed: | PMID8012652 PMID 8619474 | ||
CCDS IDs: | CCDSCCDS33189.1 |
Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene.
This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the cytoskeleton with a variety of cellular processes. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: 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).
Products for LRPPRC gene
Catalog | Product Name | Application | Company |
GFS:E04876 | leucine-rich PPR-motif containing; ELISA kit | ELISA | n/a |
GFS:A04876 | leucine-rich PPR-motif containing; Anti | ANTIBODIES | n/a |
GFS:P04876 | leucine-rich PPR-motif containing; Protien | Protien | n/a |