DDC
Function
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin.
Involvement in disease
Aromatic L-amino-acid decarboxylase deficiency
AADCD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2.
Sequence Similarities
Belongs to the group II decarboxylase family.
Tissue Specificity
Isoform 2
High expression in kidney.
Alternative names
AADC, DDC, Aromatic-L-amino-acid decarboxylase, DOPA decarboxylase