DDC dopa decarboxylase
Gene ID: 1644, updated on 5-Jan-2025Gene type: protein coding
Also known as: AADC
- See all available tests in GTR for this gene
- Go to complete Gene record for DDC
- Go to Variation Viewer for DDC variants
Summary
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genetic locus in 7p12.2 associated with treatment resistant schizophrenia. GeneReviews: Not available | |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Deficiency of aromatic-L-amino-acid decarboxylase | See labs |
| Genome-wide and fine-resolution association analysis of malaria in West Africa. GeneReviews: Not available | |
| Germline genomic variants associated with childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
| Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
| Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. GeneReviews: Not available |
Genomic context
- Location:
- 7p12.2-p12.1
- Sequence:
- Chromosome: 7; NC_000007.14 (50458442..50565405, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DDC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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