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MGP000804

UniProt Annotations

Entry Information
Gene Namedopa decarboxylase (aromatic L-amino acid decarboxylase)
Protein EntryDDC_HUMAN
UniProt IDP20711
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P20711-1; Sequence=Displayed; Name=2; Synonyms=alt-DDC; IsoId=P20711-2; Sequence=VSP_046569, VSP_046570; Note=High expression in kidney.; Name=3; IsoId=P20711-3; Sequence=VSP_047175; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=P20711-4; Sequence=VSP_047176; Note=No experimental confirmation available. Gene prediction based on EST data.;
Catalytic Activity5-hydroxy-L-tryptophan = 5-hydroxytryptamine + CO(2).
Catalytic ActivityL-dopa = dopamine + CO(2).
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence={ECO:0000269|PubMed:22143761};
DiseaseAromatic 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.11}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the decarboxylation of L-3,4- dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
InteractionP10275:AR; NbExp=2; IntAct=EBI-1632155, EBI-608057;
PathwayCatecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2.
SimilarityBelongs to the group II decarboxylase family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:22143761}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DDCID50590ch7p12.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ddc/";
Web ResourceName=Wikipedia; Note=Aromatic L-amino-acid decarboxylase entry; URL="http://en.wikipedia.org/wiki/Aromatic-L-amino-acid_decarboxylase";
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