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Gene

DDC

dopa decarboxylase

Summary

Cytogenetic location
7p12.2-p12.1
Coordinates
Chromosome 7: 50,458,442–50,565,405 (GRCh38)
Exons
15 exons across 107 kb
Protein
480 amino acids
Also known as
AADC
MANE Select transcript
ENST00000444124.7NM_001082971.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • BH4 Deficiency & Monoamine Neurotransmitter Disorders

    • Inborn Disorders of Neurotransmitter Metabolism and Transport

      Includes aromatic L-amino acid decarboxylase (AADC) deficiency, tyrosine hydroxylase deficiency and vesicular monoamine transporter (SLC18A2) disease, which can cause movement disorders, low muscle tone and developmental delay.

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

      Knowing allows targeted treatment such as L-dopa for tyrosine hydroxylase deficiency or gene therapy for AADC deficiency.

How DDC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where DDC sits. DDC and 5 genes near it on chromosome 7, from 50,011,924 to 51,011,923.Chromosome 77p12.2-p12.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.350.2 Mb50.4 Mb50.6 Mb50.8 Mb51 MbZPBP: 49,850,421–50,121,329, reverse strandZPBPSPMIP7: 50,095,883–50,159,256, forward strandSPMIP7IKZF1: 50,303,412–50,405,101, forward strandIKZF1FIGNL1: 50,439,722–50,450,406, reverse strandFIGNL1DDC: 50,458,442–50,565,405, reverse strandDDCGRB10: 50,590,063–50,793,486, reverse strandGRB10Diagram of DDC: 15 exons on the reverse strand of chromosome 7Exon 14: 9 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 5 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 12 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 15: 50,458,442–50,458,843, 402 basesExon 14: 50,463,213–50,463,431, 219 basesExon 13: 50,467,214–50,467,315, 102 basesExon 12: 50,470,073–50,470,171, 99 basesExon 11: 50,476,624–50,476,643, 20 basesExon 10: 50,479,787–50,479,863, 77 basesExon 9: 50,495,350–50,495,417, 68 basesExon 8: 50,499,148–50,499,242, 95 basesExon 7: 50,503,993–50,504,059, 67 basesExon 6: 50,528,137–50,528,280, 144 basesExon 5: 50,529,208–50,529,342, 135 basesExon 4: 50,537,860–50,537,979, 120 basesExon 3: 50,539,915–50,540,028, 114 basesExon 2: 50,543,885–50,544,113, 229 basesExon 1: 50,565,285–50,565,405, 121 bases15141210864215′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 2 kb of the gene's 107 kb; 1,443 of those bases code for the protein.

How a genome test reads DDC

82

positions in DDC 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 107 kb of DDC, introns included, not only the 2 kb of exons.

Genes linked to the same conditions

Traits linked to DDC

The Human Phenotype Ontology lists these as features of the rare conditions DDC can cause. Each trait's page lists the other genes linked to it.

External links

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.). DDC gene: dopa decarboxylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/ddc

Vancouver

Dante Labs. DDC gene: dopa decarboxylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ddc

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