DDC Gene (Protein Coding)

Dopa Decarboxylase

GC07M050458
GIFtS:
53
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... See more...

Aliases for DDC Gene

Aliases for DDC Gene

  • Dopa Decarboxylase 2 3 5
  • AADC 2 3 4
  • Aromatic-L-Amino-Acid Decarboxylase 3 4
  • EC 4.1.1.28 4 50
  • Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) 3
  • Aromatic L-Amino Acid Decarboxylase 2
  • DOPA Decarboxylase 4
  • EC 4.1.1 50
  • DDC 5

External Ids for DDC Gene

Previous GeneCards Identifiers for DDC Gene

  • GC07M049990
  • GC07M050233
  • GC07M050267
  • GC07M050300
  • GC07M050493
  • GC07M050526
  • GC07M050377

Summaries for DDC Gene

Entrez Gene Summary for DDC Gene

  • 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]

GeneCards Summary for DDC Gene

DDC (Dopa Decarboxylase) is a Protein Coding gene. Diseases associated with DDC include Aromatic L-Amino Acid Decarboxylase Deficiency and Dopamine Beta-Hydroxylase Deficiency. Among its related pathways are Amine-derived hormones and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include enzyme binding and pyridoxal phosphate binding. An important paralog of this gene is HDC.

UniProtKB/Swiss-Prot Summary for DDC Gene

  • Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.

Tocris Summary for DDC Gene

  • Decarboxylases are a group of enzymes that remove carboxyl groups (CO2H) from acidic substrates and require either pyridoxal phosphate or pyruvate as a co-factor. Decarboxylases are known for their various roles in metabolic pathways and carbohydrate synthesis.

Additional gene information for DDC Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDC Gene

Genomics for DDC Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DDC Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J050553 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 250.7 +4.7 4670 13.7 MYC NCOR1 IKZF1 CEBPA ZIC2 NFIC YY1 MXD4 REST CEBPB DDC FIGNL1 DDC-AS1 KP729827
GH07J050467 Promoter/Enhancer 1.3 EPDnew ENCODE 250.2 +97.2 97153 0.9 ZNF654 MYC ATF2 KLF9 BRCA1 MXD4 NONO REST KLF11 TRIM22 HSALNG0057955 DDC FIGNL1 lnc-IKZF1-7 KP729827 IKZF1
GH07J050537 Promoter 0.3 EPDnew 261.7 +27.5 27494 0.1 DDC FIGNL1 KP729827 DDC-AS1 HSALNG0057957 IKZF1
GH07J050533 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.3 +30.7 30671 3.3 NCOR1 IKZF1 JUND ZNF592 BRCA1 NFIC NONO CEBPB BHLHE40 MBD2 FIGNL1 DDC DDC-AS1 KP729827 HSALNG0057957 IKZF1
GH07J050631 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 -67.0 -67040 3 CEBPA ATF3 POLR2A CTCF TRIM22 HOMEZ FOXA2 CTBP1 SMAD4 ZNF511 GRB10 DDC FIGNL1 IKZF1 ENSG00000286658 hsa-miR-5095-456
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDC

Top Transcription factor binding sites by QIAGEN in the DDC gene promoter:
  • HNF-1
  • HNF-1A
  • NRSF form 1
  • NRSF form 2
  • SRF
  • SRF (504 AA)

Genomic Locations for DDC Gene

Latest Assembly
chr7:50,458,436-50,565,460
(GRCh38/hg38)
Size:
107,025 bases
Orientation:
Minus strand

Previous Assembly
chr7:50,526,140-50,633,102
(GRCh37/hg19 by Entrez Gene)
Size:
106,963 bases
Orientation:
Minus strand

chr7:50,526,134-50,633,154
(GRCh37/hg19 by Ensembl)
Size:
107,021 bases
Orientation:
Minus strand

Genomic View for DDC Gene

Genes around DDC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DDC Gene

Proteins for DDC Gene

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  • Protein details for DDC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20711-DDC_HUMAN
    Recommended name:
    Aromatic-L-amino-acid decarboxylase
    Protein Accession:
    P20711
    Secondary Accessions:
    • C9IYA0
    • E7ER62
    • E7EU95
    • Q16723
    • Q5W5T9
    • Q75MJ6

    Protein attributes for DDC Gene

    Size:
    480 amino acids
    Molecular mass:
    53926 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • [Isoform 2]: High expression in kidney.

    Three dimensional structures from OCA and Proteopedia for DDC Gene

    Alternative splice isoforms for DDC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDC Gene

Protein Expression for DDC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DDC Gene

P20711:
  • MLADMLCGAI
  • HVDAAYAG
  • SDQAHSSVE
  • HEFESLVRQDPRFEIC
  • CIGFSWAASPACTELETVM
  • SPACTELE
  • QAHSSVERAGL
  • RRFRSLK
  • GVEFADSFNFNPHKWLLVNFDCSAMWVK
  • DYRHWQIP
  • RGKEMVDY
  • SPYFFAYFPTA
  • GGGVIQG
  • RHWQIPLGRRFR
  • GLVCFRLKGSN
  • DAAYAGSA

Post-translational modifications for DDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DDC Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DDC Gene

Gene Families for DDC Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for DDC Gene

InterPro:
Blocks:
  • Pyridoxal-dependent decarboxylase
  • Aromatic-L-amino-acid decarboxylase

Suggested Antigen Peptide Sequences for DDC Gene

GenScript: Design optimal peptide antigens:
  • DOPA decarboxylase (DDC_HUMAN)
  • Dopa decarboxylase (Aromatic L-amino acid decarboxylase), isoform CRA_a (Q53Y41_HUMAN)
  • Putative L-Dopa decarboxylase (Q5W5T9_HUMAN)
  • DDC protein (Q6IBS8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20711

UniProtKB/Swiss-Prot:

DDC_HUMAN :
  • Belongs to the group II decarboxylase family.
Family:
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with DDC: view

Function for DDC Gene

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  6. Cell Lines for research

Molecular function for DDC Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + L-dopa = CO2 + dopamine; Xref=Rhea:RHEA:12272, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57504, ChEBI:CHEBI:59905; EC=4.1.1.28;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-hydroxy-L-tryptophan + H(+) = CO2 + serotonin; Xref=Rhea:RHEA:18533, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:58266, ChEBI:CHEBI:350546; EC=4.1.1.28;.
GENATLAS Biochemistry:
DOPA decarboxylase,aromatic L-amino acid decarboxylase

Enzyme Numbers (IUBMB) for DDC Gene

Phenotypes From GWAS Catalog for DDC Gene

Gene Ontology (GO) - Molecular Function for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004058 aromatic-L-amino-acid decarboxylase activity TAS,IDA 16338639
GO:0005515 protein binding IPI 12864730
GO:0016597 amino acid binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with DDC: view
genes like me logo Genes that share phenotypes with DDC: view

Human Phenotype Ontology for DDC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for DDC

miRNA for DDC Gene

miRTarBase miRNAs that target DDC

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDC

Clone products for research

  • Addgene plasmids for DDC

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DDC Gene

Localization for DDC Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDC gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 3
plasma membrane 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0008021 synaptic vesicle IEA --
GO:0030424 axon IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with DDC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DDC Gene

Pathways & Interactions for DDC Gene

genes like me logo Genes that share pathways with DDC: view

UniProtKB/Swiss-Prot P20711-DDC_HUMAN

  • Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2.

Gene Ontology (GO) - Biological Process for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006584 catecholamine metabolic process IBA 21873635
GO:0007623 circadian rhythm IEA --
GO:0009636 response to toxic substance IEA --
GO:0010259 multicellular organism aging IEA --
genes like me logo Genes that share ontologies with DDC: view

No data available for SIGNOR curated interactions for DDC Gene

Drugs & Compounds for DDC Gene

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(43) Drugs for DDC Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbidopa Approved Pharma Target, inhibitor 234
Levodopa Approved Pharma Enzyme, substrate 497
Benserazide Approved, Investigational Pharma Target, inhibitor 27
Amantadine Approved Pharma Enzyme, inducer 88
Dopamine Approved Pharma 4133

(33) Additional Compounds for DDC Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phenylethylamine
  • 1-Amino-1-phenylethane
  • 1-Phenethylamine
  • alpha-Aminoethylbenzene
  • alpha-Methylbenzenemethanamine
  • alpha-Methylbenzylamine
 98-84-0
5-Hydroxykynurenamine
  • 3-Amino-1-(2-amino-5-hydroxyphenyl)-1-propanone
  • Mausamine
  • Mousamine
  • 5-Hydroxykynuramine
  • 5-Hydroxykynuramine monohydrobromide
 708-23-6
5-Hydroxykynurenine
  • 2-Amino-4-(2-amino-5-hydroxyphenyl)-4-oxobutanoic acid
  • 2-Amino-4-(2-amino-5-hydroxyphenyl)-4-oxobutanoate
  • 5-Hydroxy-L-kynurenine
  • 5-Hydroxykynurenine, (L)-isomer
 720-00-3
DL-Dopa
  • (+-)-3-(3,4-Dihydroxyphenyl)alanine
  • (+-)-Dopa
  • (R,S)-Dopa
  • 3',4'-Dihydroxyphenylalanine
  • 3-Hydroxy-DL-tyrosine
 63-84-3
Hydroxykynurenine
  • 2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoic acid
  • 3-(3-Hydroxyanthraniloyl)alanine
  • 3-Hydroxy-DL-kynurenine
  • 2-Amino-4-(2-amino-3-hydroxyphenyl)-4-oxobutanoate
  • 3-(3-Hydroxyanthraniloyl)-alanine
 484-78-6

(3) Tocris Compounds for DDC Gene

Compound Action Cas Number
(S)-(-)-Carbidopa Aromatic L-amino acid decarboxylase inhibitor 28860-95-9
DFMO Ornithine decarboxylase inhibitor 68278-23-9
L-(-)-alpha-Methyldopa Aromatic L-amino acid decarboxylase inhibitor 555-30-6

(2) ApexBio Compounds for DDC Gene

Compound Action Cas Number
Benserazide HCl 0 14919-77-8
Carbidopa 28860-95-9
genes like me logo Genes that share compounds with DDC: view

Drug products for research

Transcripts for DDC Gene

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mRNA/cDNA for DDC Gene

7 REFSEQ mRNAs :
123 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDC

Clone products for research

  • Addgene plasmids for DDC

Alternative Splicing Database (ASD) splice patterns (SP) for DDC Gene

No ASD Table

Relevant External Links for DDC Gene

GeneLoc Exon Structure for
DDC

Expression for DDC Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDC Gene

mRNA expression in normal human tissues for DDC Gene
mRNA expression by BioGPS for DDC GenemRNA expression by GTEx for DDC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDC Gene

This gene is overexpressed in Kidney - Cortex (x21.0), Small Intestine - Terminal Ileum (x8.6), Colon - Transverse (x7.2), and Liver (x6.6).

Protein differential expression in normal tissues from HIPED for DDC Gene

This gene is overexpressed in Kidney (47.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDC Gene



Protein tissue co-expression partners for DDC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDC

SOURCE GeneReport for Unigene cluster for DDC Gene:

Hs.359698

Evidence on tissue expression from TISSUES for DDC Gene

  • Liver(4.5)
  • Lung(4.5)
  • Nervous system(3.3)
  • Kidney(3.2)
  • Adrenal gland(2.9)
  • Blood(2.3)
  • Skin(2.2)
  • Stomach(2.2)
  • Intestine(2.1)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • chest wall
  • esophagus
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • rectum
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • blood vessel
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with DDC: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for DDC Gene

Orthologs for DDC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DDC 29 30
  • 99.51 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DDC 29 30
  • 85.04 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ddc 29
  • 84.72 (n)
Dog
(Canis familiaris)
 Mammalia DDC 29 30
  • 84.17 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ddc 29 16 30
  • 83.96 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DDC 30
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DDC 30
  • 66 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DDC 29 30
  • 73.52 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DDC 30
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ddc 29
  • 68.89 (n)
Str.8146 29
Zebrafish
(Danio rerio)
 Actinopterygii ddc 29 30
  • 69.68 (n)
 OneToOne
wufa56d05 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Ddc 29 30 31
  • 61.96 (n)
 OneToMany
CG30445 31
  • 54 (a)
CG30446 31
  • 54 (a)
Hdc 31
  • 53 (a)
amd 30 31
  • 42 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009091 29
  • 61.43 (n)
Worm
(Caenorhabditis elegans)
 Secernentea tdc-1 31
  • 55 (a)
bas-1 30
  • 40 (a)
 OneToMany
ZK829.2 31
  • 39 (a)
basl-1 30
  • 36 (a)
 OneToMany
C05D2.3 31
  • 36 (a)
F12A10.3 31
  • 34 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT2G20340 29
  • 53.12 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0437500 29
  • 53.55 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToMany
-- 30
  • 50 (a)
 OneToMany
-- 30
  • 49 (a)
 OneToMany
-- 30
  • 48 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08275 29
  • 49.9 (n)
Species where no ortholog for DDC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DDC Gene

ENSEMBL:
Gene Tree for DDC (if available)
TreeFam:
Gene Tree for DDC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDC: view image
Alliance of Genome Resources:
Additional Orthologs for DDC

Paralogs for DDC Gene

Paralogs for DDC Gene

(3) SIMAP similar genes for DDC Gene using alignment to 6 proteins:

  • DDC_HUMAN
  • C9JMP0_HUMAN
  • F8WER1_HUMAN
  • H7BZF7_HUMAN
  • Q53Y41_HUMAN
  • Q6IBS8_HUMAN
genes like me logo Genes that share paralogs with DDC: view

Variants for DDC Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDC Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1001454 Uncertain Significance: Deficiency of aromatic-L-amino-acid decarboxylase 50,537,871(-) C/T
NM_001082971.2(DDC):c.424G>A (p.Gly142Arg) 		MISSENSE_VARIANT,INTRON
1002352 Uncertain Significance: Deficiency of aromatic-L-amino-acid decarboxylase 50,543,952(-) G/A
NM_001082971.2(DDC):c.134C>T (p.Ala45Val) 		MISSENSE
1003588 Uncertain Significance: Deficiency of aromatic-L-amino-acid decarboxylase 50,499,198(-) C/T
NM_001082971.2(DDC):c.826G>A (p.Gly276Ser) 		MISSENSE
1006936 Uncertain Significance: Deficiency of aromatic-L-amino-acid decarboxylase 50,499,170(-) C/T
NM_001082971.2(DDC):c.854G>A (p.Arg285Gln) 		MISSENSE
1008957 Uncertain Significance: Deficiency of aromatic-L-amino-acid decarboxylase 50,463,282(-) C/G
NM_001082971.2(DDC):c.1392G>C (p.Trp464Cys) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DDC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DDC Gene

Variant ID Type Subtype PubMed ID
dgv1286e214 CNV gain 21293372
esv2678897 CNV deletion 23128226
esv3613125 CNV loss 21293372
esv3613127 CNV gain 21293372
nsv1015758 CNV gain 25217958
nsv1016665 CNV gain 25217958
nsv1026081 CNV loss 25217958
nsv1114937 CNV deletion 24896259
nsv507390 OTHER sequence alteration 20534489
nsv516640 CNV loss 19592680
nsv606905 CNV loss 21841781

Variation tolerance for DDC Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDC Gene

Human Gene Mutation Database (HGMD)
DDC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDC
Leiden Open Variation Database (LOVD)
DDC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDC Gene

Disorders for DDC Gene

MalaCards: The human disease database

(25) MalaCards diseases for DDC Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
aromatic l-amino acid decarboxylase deficiency
  • aadc deficiency
dopamine beta-hydroxylase deficiency
  • congenital dopamine beta-hydroxylase deficiency
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
oculogyric crisis
autoimmune polyendocrine syndrome type 1
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search DDC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDC_HUMAN
  • Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]: An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive. {ECO:0000269 PubMed:14991824, ECO:0000269 PubMed:15079002, ECO:0000269 Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for DDC Gene

hypotonia,developmental delay and paroxysmal movements with oculogyric crises

Additional Disease Information for DDC

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DDC: view

Publications for DDC Gene

  1. Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs. (PMID: 1612608) Scherer LJ … Marsh JL (Genomics 1992) 2 3 4 22
  2. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PMID: 15079002) Pons R … De Vivo DC (Neurology 2004) 3 4 22
  3. Identification of a neuron-specific promoter of human aromatic L-amino acid decarboxylase gene. (PMID: 8510497) Le Van Thai A … Weber MJ (Brain research. Molecular brain research 1993) 3 4 22
  4. Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase, the enzyme for catecholamine and serotonin biosynthesis. (PMID: 1540578) Sumi-Ichinose C … Nagatsu T (Biochemistry 1992) 3 4 22
  5. Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation. (PMID: 1395716) Craig SP … Craig IW (Cytogenetics and cell genetics 1992) 3 4 22

ExternalLinks

View latest publications for DDC gene in Mastermind

Products for DDC Gene

  • Addgene plasmids for DDC

Sources for DDC Gene