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Gene

MPC1

mitochondrial pyruvate carrier 1

Summary

Cytogenetic location
6q27
Coordinates
Chromosome 6: 166,364,919–166,382,940 (GRCh38)
Exons
5 exons across 18 kb
Protein
109 amino acids
Inheritance
Autosomal recessive
Also known as
dJ68L15.3, CGI-129, SLC54A1
Previous symbols
BRP44L
MANE Select transcript
ENST00000360961.11NM_016098.4
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 report relevant to this gene

  • Pyruvate Dehydrogenase & Pyruvate Carboxylase Deficiency

    • Mitochondrial Pyruvate Carrier DeficiencyAutosomal recessive

      Caused by variants in MPC1, which can cause lactic acidosis and developmental delay.

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

      Knowing can end a diagnostic search and guide specialist dietary advice.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MPC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 6, with a bracket where MPC1 sits. MPC1 and 7 genes near it on chromosome 6, from 165,873,930 to 166,873,929.Chromosome 66q27p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27166 Mb166.2 Mb166.4 Mb166.6 Mb166.8 MbPDE10A: 165,327,287–165,988,117, reverse strandPDE10ATBXT: 166,157,656–166,168,815, reverse strandTBXTPRR18: 166,305,300–166,308,448, reverse strandPRR18SFT2D1: 166,319,724–166,342,610, reverse strandSFT2D1MPC1: 166,364,919–166,382,940, reverse strandMPC1RPS6KA2: 166,409,364–166,906,451, reverse strandRPS6KA2RAMACL: 166,583,009–166,586,678, reverse strandRAMACL: 166,858,094–166,956,124, reverse strandDiagram of MPC1: 5 exons on the reverse strand of chromosome 6Exon 4: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 5: 166,364,919–166,365,453, 535 basesExon 4: 166,365,974–166,366,106, 133 basesExon 3: 166,366,795–166,366,891, 97 basesExon 2: 166,370,218–166,370,221, 4 basesExon 1: 166,382,806–166,382,940, 135 bases543215′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 0.9 kb of the gene's 18 kb; 330 of those bases code for the protein.

How a genome test reads MPC1

5

positions in MPC1 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 18 kb of MPC1, introns included, not only the 0.9 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.). MPC1 gene: mitochondrial pyruvate carrier 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mpc1

Vancouver

Dante Labs. MPC1 gene: mitochondrial pyruvate carrier 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mpc1

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