LRPPRC

Last updated
LRPPRC
Identifiers
Aliases LRPPRC , CLONE-23970, GP130, LRP130, LSFC, leucine rich pentatricopeptide repeat containing, MC4DN5
External IDs OMIM: 607544; MGI: 1919666; HomoloGene: 32695; GeneCards: LRPPRC; OMA:LRPPRC - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_133259

NM_028233

RefSeq (protein)

NP_573566

NP_082509

Location (UCSC) Chr 2: 43.89 – 44 Mb Chr 17: 85.01 – 85.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene. [5] [6] [7] Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene. [7]

Contents

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. [8]

Clinical significance

An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of Leigh syndrome. [9] Furthermore, mutation in the LRPPRC gene causes lowered expression of MT-CO1 (cytochrome c oxidase I) and MT-CO3. [10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000138095 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024120 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Hou J, Wang F, McKeehan WL (Jul 1994). "Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2)". In Vitro Cell Dev Biol Anim. 30A (2): 111–4. doi:10.1007/BF02631402. PMID   8012652. S2CID   24824618.
  6. Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Jun 1996). "A "double adaptor" method for improved shotgun library construction". Anal Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
  7. 1 2 "Entrez Gene: LRPPRC leucine-rich PPR-motif containing".
  8. Liu L, McKeehan WL (January 2002). "Sequence Analysis of LRPPRC and Its SEC1 Domain Interaction Partners Suggests Roles in Cytoskeletal Organization, Vesicular Trafficking, Nucleocytosolic Shuttling and Chromosome Activity". Genomics. 79 (1): 124–36. doi:10.1006/geno.2001.6679. PMC   3241999 . PMID   11827465.
  9. Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES (January 2003). "Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 605–10. doi: 10.1073/pnas.242716699 . PMC   141043 . PMID   12529507.
  10. Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH (August 2004). "The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA". Biochem. J. 382 (Pt 1): 331–6. doi:10.1042/BJ20040469. PMC   1133946 . PMID   15139850.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.