DDC gene

dopa decarboxylase

The DDC gene provides instructions for making the aromatic l-amino acid decarboxylase (AADC) enzyme, which is important in the brain and nervous system. This enzyme takes part in the pathway that produces dopamine and serotonin, which are chemical messengers that transmit signals between nerve cells (neurotransmitters).

Dopamine is produced from the protein building block (amino acid) tyrosine, and serotonin is produced from the amino acid tryptophan. Both neurotransmitters are produced in two-step processes. First, other enzymes control the reactions that convert tyrosine to L-dopa, and tryptophan to 5-hydroxytryptophan. The AADC enzyme then converts L-dopa and 5-hydroxytryptophan to dopamine and serotonin, respectively. To do this, it removes a molecular structure called a carboxyl group, consisting of a carbon atom, two oxygen atoms, and a hydrogen atom.

Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.

Studies have shown certain variations (polymorphisms) in the DDC gene to be associated with increased risk of nicotine dependence, schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder; however, other studies have not supported these findings. Many genetic and environmental factors are believed to contribute to these complex conditions.

Cytogenetic Location: 7p12.2-p12.1, which is the short (p) arm of chromosome 7 between positions 12.2 and 12.1

Molecular Location: base pairs 50,458,436 to 50,565,460 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p12.2-p12.1, which is the short (p) arm of chromosome 7 between positions 12.2 and 12.1
  • AADC
  • aromatic L-amino acid decarboxylase
  • dopa decarboxylase (aromatic L-amino acid decarboxylase)