rs770717871
This variant is located in the DDC gene.
▶ClinVar annotation
not provided; Inborn genetic diseases; Deficiency of aromatic-L-amino-acid decarboxylase
View on ClinVar →About DDC
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. [provided by RefSeq, Jun 2011]
View all DDC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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