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Gene

PC

pyruvate carboxylase

Summary

Cytogenetic location
11q13.2
Coordinates
Chromosome 11: 66,848,420–66,958,383 (GRCh38)
Exons
23 exons across 110 kb
Protein
1,178 amino acids
Inheritance
Autosomal recessive
Also known as
PCB
MANE Select transcript
ENST00000393960.7NM_001040716.2
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

    • Pyruvate Carboxylase DeficiencyAutosomal recessive

      Caused by variants in PC, which can cause lactic acidosis, low blood sugar and developmental problems, ranging from severe neonatal to milder forms.

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

      Knowing allows avoidance of fasting, prompt treatment of metabolic crises and specialist dietary management; the ketogenic diet must be avoided.

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 PC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where PC sits. PC and 32 genes near it on chromosome 11, from 66,403,402 to 67,403,401.Chromosome 1111q13.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2566.6 Mb66.8 Mb67 Mb67.2 Mb67.4 MbNPAS4: 66,421,033–66,426,707, forward strandNPAS4MRPL11: 66,435,075–66,466,738, reverse strandMRPL11PELI3: 66,466,303–66,478,998, forward strandPELI3DPP3: 66,479,990–66,510,188, forward strandDPP3: 66,509,079–66,533,613, forward strandBBS1: 66,510,606–66,534,660, forward strandBBS1ZDHHC24: 66,520,620–66,546,244, reverse strandZDHHC24ACTN3: 66,546,395–66,563,334, forward strandACTN3CTSF: 66,563,462–66,568,879, reverse strandCTSFCCDC87: 66,590,176–66,593,063, reverse strandCCDC87CCS: 66,592,843–66,606,703, forward strandCCSRBM14: 66,616,594–66,629,934, forward strandRBM14RBM14-RBM4: 66,616,626–66,646,469, forward strandRBM14-RBM4RBM4: 66,637,771–66,668,380, forward strandRBM4RBM4B: 66,664,994–66,677,925, reverse strandRBM4BSPTBN2: 66,682,496–66,744,670, reverse strandSPTBN2TOP6BL: 66,744,451–66,843,516, forward strandTOP6BLRCE1: 66,842,835–66,848,159, forward strandRCE1PC: 66,848,420–66,958,383, reverse strandPCLRFN4: 66,856,546–66,860,475, forward strandLRFN4C11orf86: 66,975,272–66,977,009, forward strandC11orf86SYT12: 67,006,772–67,051,110, forward strandSYT12RHOD: 67,056,608–67,072,044, forward strandRHODKDM2A: 67,119,247–67,258,082, forward strandKDM2AGRK2: 67,266,351–67,286,562, forward strandGRK2ANKRD13D: 67,288,655–67,302,486, forward strandANKRD13DSSH3: 67,303,478–67,312,608, forward strandSSH3RAD9A: 67,317,871–67,398,412, forward strandRAD9APOLD4: 67,345,400–67,356,972, reverse strandPOLD4: 67,351,572–67,373,584, reverse strandCLCF1: 67,364,168–67,374,301, reverse strandCLCF1PPP1CA: 67,398,176–67,421,183, reverse strandTBC1D10C: 67,398,454–67,410,092, forward strandDiagram of PC: 23 exons on the reverse strand of chromosome 11Exon 23: 8 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 21: 16 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 19: 18 known disease-causing sitesExon 18: 10 known disease-causing sitesExon 17: 11 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 23: 66,848,420–66,849,147, 728 basesExon 22: 66,849,230–66,849,370, 141 basesExon 21: 66,849,611–66,849,859, 249 basesExon 20: 66,849,937–66,850,116, 180 basesExon 19: 66,850,220–66,850,464, 245 basesExon 18: 66,850,674–66,850,923, 250 basesExon 17: 66,851,040–66,851,280, 241 basesExon 16: 66,851,790–66,851,946, 157 basesExon 15: 66,852,439–66,852,660, 222 basesExon 14: 66,852,747–66,852,836, 90 basesExon 13: 66,853,239–66,853,383, 145 basesExon 12: 66,863,774–66,863,956, 183 basesExon 11: 66,866,187–66,866,349, 163 basesExon 10: 66,868,846–66,868,964, 119 basesExon 9: 66,870,302–66,870,453, 152 basesExon 8: 66,870,775–66,870,892, 118 basesExon 7: 66,871,052–66,871,197, 146 basesExon 6: 66,871,315–66,871,480, 166 basesExon 5: 66,871,687–66,871,871, 185 basesExon 4: 66,872,024–66,872,159, 136 basesExon 3: 66,952,430–66,952,468, 39 basesExon 2: 66,954,249–66,954,436, 188 basesExon 1: 66,958,322–66,958,383, 62 bases2315′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 4.3 kb of the gene's 110 kb; 3,537 of those bases code for the protein.

How a genome test reads PC

204

positions in PC 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 110 kb of PC, introns included, not only the 4.3 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.). PC gene: pyruvate carboxylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/pc

Vancouver

Dante Labs. PC gene: pyruvate carboxylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pc

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