DOPA Decarboxylase è un gene codificato dal simbolo DDC. Altri nomi includono: Aromatic-L-amino-acid decarboxylase; AADC; DDC. DOPA Decarboxylase ha una massa di 53.93kDa, una lunghezza di amminoacidi di 480, ed è implicato in Aromatic L-amino-acid decarboxylase deficiency.
Offriamo 1 proteine DOPA Decarboxylase
Informazioni su geni e proteine
Riepilogo UniProt
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the group II decarboxylase family.
