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Gene

PCBD1

pterin-4 alpha-carbinolamine dehydratase 1

Summary

Cytogenetic location
10q22.1
Coordinates
Chromosome 10: 70,883,510–70,888,565 (GRCh38)
Exons
4 exons across 5.1 kb
Protein
104 amino acids
Inheritance
Autosomal recessive
Also known as
PCD
Previous symbols
DCOH, PCBD
MANE Select transcript
ENST00000299299.4NM_000281.4
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

  • BH4 Deficiency & Monoamine Neurotransmitter Disorders

    • Hyperphenylalaninemia due to BH4 DeficiencyAutosomal recessive

      Caused by variants in PTS, QDPR, PCBD1 or GCH1, which raise phenylalanine and reduce dopamine and serotonin, leading to movement problems, seizures and developmental delay.

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

      Knowing allows treatment with BH4, neurotransmitter precursors (L-dopa, 5-hydroxytryptophan) and folinic acid where needed.

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 PCBD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where PCBD1 sits. PCBD1 and 9 genes near it on chromosome 10, from 70,386,038 to 71,386,037.Chromosome 1010q22.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.370.4 Mb70.6 Mb70.8 Mb71 Mb71.2 MbEIF4EBP2: 70,404,130–70,428,618, forward strandEIF4EBP2NODAL: 70,431,936–70,447,951, reverse strandNODALPALD1: 70,477,658–70,668,754, forward strandPALD1PRF1: 70,596,401–70,602,788, reverse strandPRF1ADAMTS14: 70,672,367–70,762,441, forward strandADAMTS14TBATA: 70,771,238–70,785,401, reverse strandTBATASGPL1: 70,815,899–70,958,721, forward strandSGPL1PCBD1: 70,883,510–70,888,565, reverse strandPCBD1UNC5B: 71,212,523–71,302,885, forward strandUNC5BSLC29A3: 71,319,232–71,381,423, forward strandSLC29A3Diagram of PCBD1: 4 exons on the reverse strand of chromosome 10Exon 4: 6 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 1 known disease-causing siteExon 4: 70,883,510–70,884,048, 539 basesExon 3: 70,885,152–70,885,232, 81 basesExon 2: 70,885,798–70,885,929, 132 basesExon 1: 70,888,531–70,888,565, 35 bases43215′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 0.8 kb of the gene's 5.1 kb; 315 of those bases code for the protein.

How a genome test reads PCBD1

17

positions in PCBD1 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 5.1 kb of PCBD1, introns included, not only the 0.8 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.). PCBD1 gene: pterin-4 alpha-carbinolamine dehydratase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pcbd1

Vancouver

Dante Labs. PCBD1 gene: pterin-4 alpha-carbinolamine dehydratase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pcbd1

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