DOPA Decarboxylase est un gène codé par le symbole DDC. D'autres noms incluent: Aromatic-L-amino-acid decarboxylase; AADC; DDC. DOPA Decarboxylase a une masse de 53.93kDa, une longueur d'acide aminé de 480, et est impliqué dans Aromatic L-amino-acid decarboxylase deficiency.
Nous proposons 1 DOPA Decarboxylase protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the group II decarboxylase family.
Liens de base de données
