LRPPRC (NM_133259) - leucine rich pentatricopeptide repeat containing
Leucine-Rich Ppr Motif-Containing Protein, Mitochondrial Precursor
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Protein 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].
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.
Evidence data:
Transcript exon combination :: SRR1803612.235458.1, SRR1803615.86311.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
- Strand
- -
- Chromosome
- 2
- Protein
- 1394 residues
- All mutations
- 274
- PTM sites
- 79
- CDS
- 44,115,738 - 44,223,086
- Transcription
- 44,113,362 - 44,223,144
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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