DOPA Decarboxylase ist ein Gen, das durch das Symbol DDC kodiert wird. Andere Namen sind: Aromatic-L-amino-acid decarboxylase; AADC; DDC. DOPA Decarboxylase hat eine Masse von 53.93kDa, eine Aminosäurelänge von 480, und ist an Aromatic L-amino-acid decarboxylase deficiency beteiligt.
Wir bieten 1 DOPA Decarboxylaseproteine an
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Aromatic L-amino-acid decarboxylase deficiency: 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.
Sequenzähnlichkeiten
Belongs to the group II decarboxylase family.
