rs542063660

This variant is located in the DDC gene.

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ClinVar annotation

Pathogenic★★★☆

5 submitters7 publications

Deficiency of aromatic-L-amino-acid decarboxylase; RASopathy; not provided

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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