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
  • Aromatic-L-Amino-Acid Decarboxylase 3 4
  • EC 4.1.1.28 4 54
  • AADC 3 4
  • Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) 3
  • Aromatic L-Amino Acid Decarboxylase 2
  • DOPA Decarboxylase 4
  • EC 4.1.1 54

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 Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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 for DDC Gene

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 750.6 +4.7 4667 13.7 FOXA1 MLX RBPJ SMARCE1 NR2F1 NR2F6 CREB1 MIXL1 RUNX1 CC2D1A DDC FIGNL1 DDC-AS1 KP729825
GH07J050467 Promoter/Enhancer 1.3 EPDnew ENCODE 750.2 +97.2 97150 0.9 CTCF SREBF1 RBPJ MIXL1 MYC CC2D1A L3MBTL2 MAX RAD21 MNT DDC FIGNL1 piR-54764-578 lnc-IKZF1-7 KP729825
GH07J050537 Promoter 0.3 EPDnew 761.7 +27.5 27491 0.1 DDC FIGNL1 DDC-AS1 KP729825
GH07J050533 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.2 +30.7 30668 3.3 SMARCE1 L3MBTL2 MAX TEAD4 ZBTB33 GTF2F1 MAFK MLLT1 BACH1 CBFA2T2 FIGNL1 DDC DDC-AS1 KP729825
GH07J050591 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 -26.3 -26256 1.3 CREB1 MIXL1 AHR HNF1A KAT8 ZNF644 GATAD2A ZNF7 POLR2A KAT7 DDC piR-38716-141 lnc-DDC-4 GRB10
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DDC Gene
chr7:50,458,436-50,565,457
(GRCh38/hg38)
Size:
107,022 bases
Orientation:
Minus strand
chr7:50,526,134-50,633,154
(GRCh37/hg19)
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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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.

    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:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for DDC

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

Blocks:
InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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: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 --
GO:0016831 carboxy-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 Model Products

  • Taconic Biosciences Mouse Models for DDC

CRISPR Products

miRNA for DDC Gene

miRTarBase miRNAs that target DDC

Clone Products

  • 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
cytoskeleton 2
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 0

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 IEA --
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:0007623 circadian rhythm IEA --
GO:0009636 response to toxic substance IEA --
GO:0010259 multicellular organism aging IEA --
GO:0015842 aminergic neurotransmitter loading into synaptic vesicle 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

Products:

  1. Drug

(45) 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 Inhibition, Inhibitor, Target, inhibitor 209
Benserazide Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor 25
Amantadine Approved Pharma Enzyme, inducer 78
Levodopa Approved Pharma Agonist, Enzyme 454
Cycloserine Approved Pharma Enzyme, inhibitor 124

(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

Transcripts for DDC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DDC Gene

(7) REFSEQ mRNAs :
(81) Additional mRNA sequences :
(116) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • 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
ECgene alternative splicing isoforms for
DDC

Expression for DDC Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

NURSA nuclear receptor signaling pathways regulating expression of DDC Gene:

DDC

SOURCE GeneReport for Unigene cluster for DDC Gene:

Hs.359698

Evidence on tissue expression from TISSUES for DDC Gene

  • Liver(4.4)
  • Lung(4.4)
  • Nervous system(3.4)
  • Kidney(3.1)
  • Adrenal gland(2.7)
  • Blood(2)

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

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 33 32
  • 99.51 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DDC 33 32
  • 85.04 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ddc 32
  • 84.72 (n)
dog
(Canis familiaris)
 Mammalia DDC 33 32
  • 84.17 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ddc 17 33 32
  • 83.96 (n)
oppossum
(Monodelphis domestica)
 Mammalia DDC 33
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DDC 33
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DDC 33 32
  • 73.52 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DDC 33
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ddc 32
  • 68.89 (n)
Str.8146 32
zebrafish
(Danio rerio)
 Actinopterygii ddc 33 32
  • 69.68 (n)
 OneToOne
wufa56d05 32
fruit fly
(Drosophila melanogaster)
 Insecta Ddc 33 34 32
  • 61.96 (n)
 OneToMany
CG30446 34
  • 54 (a)
CG30445 34
  • 54 (a)
Hdc 34
  • 53 (a)
amd 33 34
  • 42 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009091 32
  • 61.43 (n)
worm
(Caenorhabditis elegans)
 Secernentea tdc-1 34
  • 55 (a)
bas-1 33
  • 40 (a)
 OneToMany
ZK829.2 34
  • 39 (a)
basl-1 33
  • 36 (a)
 OneToMany
C05D2.3 34
  • 36 (a)
F12A10.3 34
  • 34 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT2G20340 32
  • 53.12 (n)
rice
(Oryza sativa)
 Liliopsida Os07g0437500 32
  • 53.55 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 51 (a)
 OneToMany
-- 33
  • 50 (a)
 OneToMany
-- 33
  • 49 (a)
 OneToMany
-- 33
  • 48 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU08275 32
  • 49.9 (n)
Species where no ortholog for DDC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for DDC Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs11575290 conflicting-interpretations-of-pathogenicity, Deficiency of aromatic-L-amino-acid decarboxylase 50,543,990(-) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs11575292 likely-benign, not provided, - 50,543,903(-) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs11575302 likely-benign, Deficiency of aromatic-L-amino-acid decarboxylase 50,539,996(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant, upstream_transcript_variant
rs11575542 likely-benign, Deficiency of aromatic-L-amino-acid decarboxylase, - 50,463,289(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs11575551 likely-benign, Deficiency of aromatic-L-amino-acid decarboxylase 50,458,565(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DDC Gene

MalaCards: The human disease database

(15) MalaCards diseases for DDC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 mutations 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 56
  2. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PMID: 15079002) Pons R … De Vivo DC (Neurology 2004) 3 4 23 56
  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 23 56
  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 23 56
  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 23 56

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  • Addgene plasmids for DDC

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