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GeneQ18035052· pop 5· linked from 8 articles

Also known as CLONE-23970, GP130, LRP130, LSFC, leucine rich pentatricopeptide repeat containing, MC4DN5

Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene. Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene.

Gene data

LRPPRC
Name
leucine rich pentatricopeptide repeat containing
Type
protein-coding
Aliases
CLONE-23970, GP130, LRP130, LSFC, MC4DN5

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].

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Gene · Ensembl

leucine rich pentatricopeptide repeat containing

Symbol
LRPPRC
Biotype
Protein coding
Organism
Homo sapiens
Location
2:43,886,224-43,996,226
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts
HomoloGene ID
32695
genomic end
43996226
genomic start
43886224
cytogenetic location
2p21
Sources (4)

via Wikidata · CC0

~1 min read

Article

5 sections
Contents
  • Function
  • Clinical significance
  • References
  • Further reading
  • External links

Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene. Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene.

==Function== 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.

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