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LRPPRC (NM_133259) - leucine rich pentatricopeptide repeat containing

Leucine-Rich Ppr Motif-Containing Protein, Mitochondrial Precursor

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of LRPPRC protein.
LRPPRC: leucine-rich PPR motif-containing protein, mitochondrial precursor
Description:

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]

##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000260665.12/ ENSP00000260665.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

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
6.1% of sequence is predicted to be disordered

Usage summary

Network

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 10128
UniProt
Ensembl