DDC

GENE INFORMATION

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Gene name

DDC (HGNC Symbol)

Synonyms

AADC

Description

dopa decarboxylase (aromatic L-amino acid decarboxylase) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

7 (Chromosome progress)

Cytoband

p12.1

Chromosome location (bp)

50526134 - 50633154

Ensembl

ENSG00000132437 (version 73.37)

Entrez gene

1644

UniProt

P20711 (UniProt - Evidence at protein level)

neXtProt

NX_P20711

Antibodypedia

DDC antibodies
 

PROTEIN VIEW

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DDC-001
 
DDC-002
 
DDC-003
 
DDC-006
 
DDC-008
 
DDC-009
 
DDC-013
 
DDC-014
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DDC-001 ENSP00000350616
ENST00000357936
P20711
Show all »
Show » Show » 480 53.9 No 0
DDC-002 ENSP00000403644
ENST00000444124
P20711
Show all »
Show » Show » 480 53.9 No 0
DDC-003 ENSP00000408626
ENST00000420203
C9JMP0
Show all »
Show » 31 3.7 No 0
DDC-006 ENSP00000389422
ENST00000430300
Show » Show » 361 40.9 No 0
DDC-008 ENSP00000393724
ENST00000444733
F8WER1
Show all »
Show » Show » 229 24.8 No 0
DDC-009 ENSP00000399184
ENST00000431062
P20711
Show all »
Show » Show » 387 44.2 No 0
DDC-013 ENSP00000395069
ENST00000426377
P20711
Show all »
Show » Show » 402 45.5 No 0
DDC-014 ENSP00000370371
ENST00000380984
P20711
Show all »
Show » Show » 338 37.1 No 0