Skip to content
Use your HSA or FSA funds

Gene

PCCB

propionyl-CoA carboxylase subunit beta

Summary

Cytogenetic location
3q22.3
Coordinates
Chromosome 3: 136,250,340–136,330,169 (GRCh38)
Exons
15 exons across 79.8 kb
Protein
539 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000251654.9NM_000532.5
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

  • Methylmalonic & Propionic Acidemia

    • Propionic AcidemiaAutosomal recessive

      Caused by variants in PCCA or PCCB, which can cause metabolic crises with high ammonia, as well as heart and developmental complications.

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

      Knowing allows protein-restricted diet, carnitine and emergency care plans, and monitoring for heart complications.

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 PCCB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where PCCB sits. PCCB and 3 genes near it on chromosome 3, from 135,790,255 to 136,790,254.Chromosome 33q22.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29135.8 Mb136 Mb136.2 Mb136.4 Mb136.6 MbPPP2R3A: 135,965,655–136,148,500, forward strandPPP2R3AMSL2: 135,995,448–136,197,241, reverse strandMSL2PCCB: 136,250,340–136,330,169, forward strandPCCBSTAG1: 136,336,234–136,752,464, reverse strandSTAG1Diagram of PCCB: 15 exons on the forward strand of chromosome 3Exon 1: 28 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 10 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 17 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 15 known disease-causing sitesExon 12: 19 known disease-causing sitesExon 13: 11 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 16 known disease-causing sitesExon 1: 136,250,340–136,250,558, 219 basesExon 2: 136,255,856–136,255,975, 120 basesExon 3: 136,256,555–136,256,623, 69 basesExon 4: 136,260,479–136,260,535, 57 basesExon 5: 136,261,952–136,262,065, 114 basesExon 6: 136,283,837–136,283,947, 111 basesExon 7: 136,293,756–136,293,864, 109 basesExon 8: 136,297,952–136,298,072, 121 basesExon 9: 136,301,030–136,301,111, 82 basesExon 10: 136,316,941–136,317,064, 124 basesExon 11: 136,326,803–136,326,910, 108 basesExon 12: 136,327,155–136,327,255, 101 basesExon 13: 136,327,634–136,327,732, 99 basesExon 14: 136,328,758–136,328,857, 100 basesExon 15: 136,329,905–136,330,169, 265 bases1510155′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 1.8 kb of the gene's 79.8 kb; 1,620 of those bases code for the protein.

How a genome test reads PCCB

229

positions in PCCB 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 79.8 kb of PCCB, introns included, not only the 1.8 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.). PCCB gene: propionyl-CoA carboxylase subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/pccb

Vancouver

Dante Labs. PCCB gene: propionyl-CoA carboxylase subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pccb

One test. A lifetime of answers.

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

Get my Genome Test