QuickView for DDC (gene)

Gene Symbol:

DDC Homo sapiens

Full name:

dopa decarboxylase

Synonyms:

AADC, aromatic-L-amino-acid decarboxylase, dopa decarboxylase (aromatic L-amino acid decarboxylase)

Genomic Location:

Chr 7: 50493628-50600648

Description:

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 combin...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GATTGGY_NFY_Q6_01 ,  ALPHACP1_01 ,  TGACAGNY_MEIS1_01 ,  CTTTGT_LEF1_Q2

Cytogenetic Map:

7p12.2-p12.1

search → result