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Gene

LIPT1

lipoyltransferase 1

Summary

Cytogenetic location
2q11.2
Coordinates
Chromosome 2: 99,154,967–99,163,137 (GRCh38)
Exons
2 exons across 8.2 kb
Protein
373 amino acids
Also known as
MGC12290, MGC13378
MANE Select transcript
ENST00000651691.1NM_145199.3
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 report 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 moderate

    How LIPT1 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 LIPT1 sits. LIPT1 and 14 genes near it on chromosome 2, from 98,659,052 to 99,659,051.Chromosome 22q11.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.398.8 Mb99 Mb99.2 Mb99.4 Mb99.6 MbMGAT4A: 98,619,106–98,732,639, reverse strandMGAT4ACRACDL: 98,793,845–98,936,628, reverse strandCRACDLTSGA10: 98,995,156–99,154,964, reverse strandC2orf15: 99,141,235–99,154,585, forward strandC2orf15: 99,141,485–99,322,741, forward strandLIPT1: 99,154,967–99,163,137, forward strandLIPT1: 99,154,998–99,195,298, forward strandMITD1: 99,161,427–99,181,352, reverse strandMITD1MRPL30: 99,181,111–99,224,498, forward strandLYG2: 99,242,169–99,255,666, reverse strandLYG2LYG1: 99,284,238–99,306,110, reverse strandLYG1TXNDC9: 99,306,476–99,340,702, reverse strandTXNDC9EIF5B: 99,337,361–99,401,326, forward strandEIF5BREV1: 99,400,475–99,490,466, reverse strandREV1AFF3: 99,545,419–100,192,469, reverse strandAFF3Diagram of LIPT1: 2 exons on the forward strand of chromosome 2Exon 2: 7 known disease-causing sitesExon 1: 99,154,967–99,155,051, 85 basesExon 2: 99,161,957–99,163,137, 1,181 bases125′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 1.3 kb of the gene's 8.2 kb; 1,122 of those bases code for the protein.

    How a genome test reads LIPT1

    7

    positions in LIPT1 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 8.2 kb of LIPT1, introns included, not only the 1.3 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.). LIPT1 gene: lipoyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/lipt1

    Vancouver

    Dante Labs. LIPT1 gene: lipoyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lipt1

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