Skip to content
Use your HSA or FSA funds

Gene

LRPPRC

leucine rich pentatricopeptide repeat containing

Summary

Cytogenetic location
2p21
Coordinates
Chromosome 2: 43,886,224–43,995,989 (GRCh38)
Exons
38 exons across 109.8 kb
Protein
1,394 amino acids
Also known as
GP130, LRP130
Previous symbols
LSFC
MANE Select transcript
ENST00000260665.12NM_133259.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

    • Leigh Syndrome

      • One of 69 genes linked to it

        A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

        • 5 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How LRPPRC is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 2, with a bracket where LRPPRC sits. LRPPRC and 11 genes near it on chromosome 2, from 43,441,107 to 44,441,106.Chromosome 22p21p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.343.6 Mb43.8 Mb44 Mb44.2 Mb44.4 MbTHADA: 43,230,126–43,596,070, reverse strandTHADAPLEKHH2: 43,637,249–43,767,987, forward strandPLEKHH2C1GALT1C1L: 43,675,151–43,676,429, reverse strandC1GALT1C1LDYNC2LI1: 43,774,011–43,828,352, forward strandDYNC2LI1ABCG5: 43,806,213–43,838,865, reverse strandABCG5ABCG8: 43,831,942–43,882,988, forward strandABCG8LRPPRC: 43,886,224–43,995,989, reverse strandLRPPRCPPM1B: 44,167,969–44,244,384, forward strandPPM1B: 44,168,851–44,320,310, forward strandSLC3A1: 44,275,458–44,322,674, forward strandSLC3A1PREPL: 44,316,185–44,361,862, reverse strandPREPLCAMKMT: 44,361,874–44,776,433, forward strandCAMKMTDiagram of LRPPRC: 38 exons on the reverse strand of chromosome 2Exon 37: 7 known disease-causing sitesExon 36: 6 known disease-causing sitesExon 35: 1 known disease-causing siteExon 34: 8 known disease-causing sitesExon 33: 7 known disease-causing sitesExon 32: 5 known disease-causing sitesExon 31: 7 known disease-causing sitesExon 30: 7 known disease-causing sitesExon 29: 5 known disease-causing sitesExon 28: 7 known disease-causing sitesExon 27: 4 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 23: 10 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 20: 6 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 15 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 1: 16 known disease-causing sitesExon 38: 43,886,224–43,888,656, 2,433 basesExon 37: 43,889,734–43,889,876, 143 basesExon 36: 43,894,545–43,894,629, 85 basesExon 35: 43,896,634–43,896,708, 75 basesExon 34: 43,899,219–43,899,334, 116 basesExon 33: 43,899,466–43,899,605, 140 basesExon 32: 43,901,320–43,901,524, 205 basesExon 31: 43,905,692–43,905,780, 89 basesExon 30: 43,912,432–43,912,558, 127 basesExon 29: 43,918,025–43,918,133, 109 basesExon 28: 43,918,256–43,918,398, 143 basesExon 27: 43,925,067–43,925,157, 91 basesExon 26: 43,925,893–43,925,961, 69 basesExon 25: 43,934,190–43,934,296, 107 basesExon 24: 43,934,754–43,934,878, 125 basesExon 23: 43,943,687–43,943,894, 208 basesExon 22: 43,945,332–43,945,417, 86 basesExon 21: 43,946,113–43,946,243, 131 basesExon 20: 43,947,257–43,947,370, 114 basesExon 19: 43,947,731–43,947,775, 45 basesExon 18: 43,948,122–43,948,199, 78 basesExon 17: 43,948,412–43,948,518, 107 basesExon 16: 43,949,602–43,949,659, 58 basesExon 15: 43,950,573–43,950,600, 28 basesExon 14: 43,957,385–43,957,451, 67 basesExon 13: 43,960,541–43,960,634, 94 basesExon 12: 43,963,588–43,963,706, 119 basesExon 11: 43,973,607–43,973,714, 108 basesExon 10: 43,973,795–43,973,900, 106 basesExon 9: 43,974,150–43,974,295, 146 basesExon 8: 43,974,614–43,974,758, 145 basesExon 7: 43,975,091–43,975,217, 127 basesExon 6: 43,976,143–43,976,229, 87 basesExon 5: 43,976,994–43,977,052, 59 basesExon 4: 43,977,155–43,977,276, 122 basesExon 3: 43,979,826–43,979,948, 123 basesExon 2: 43,982,238–43,982,434, 197 basesExon 1: 43,995,799–43,995,989, 191 bases38353025201510515′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 6.6 kb of the gene's 109.8 kb; 4,185 of those bases code for the protein.

    How a genome test reads LRPPRC

    260

    positions in LRPPRC where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 109.8 kb of LRPPRC, introns included, not only the 6.6 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). LRPPRC gene: leucine rich pentatricopeptide repeat containing. Retrieved 16 October 2026, from https://dantelabs.com/genes/lrpprc

    Vancouver

    Dante Labs. LRPPRC gene: leucine rich pentatricopeptide repeat containing [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lrpprc

    One test. A lifetime of answers.

    From $449Free shipping · Results in 6–8 weeks

    Get my Genome Test