GenTIGS

Dopa decarboxylase (DDC) Associated conditions: 1. Deficiency of aromatic-L-amino-acid decarboxylase

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000790.4	NP_000781.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711
2	REVIEWED	NM_001082971.2	NP_001076440.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711
3	REVIEWED	NM_001242886.2	NP_001229815.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711
4	REVIEWED	NM_001242887.2	NP_001229816.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711
5	REVIEWED	NM_001242888.2	NP_001229817.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711
6	REVIEWED	NM_001242889.2	NP_001229818.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711
7	REVIEWED	NM_001242890.2	NP_001229819.2	NC_000007.14	(50458441..50565404, complement)	Reference GRCh38.p14 Primary Assembly	P20711

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1139 reference articles

Variant Information Dopa decarboxylase (DDC) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Dopa decarboxylase (DDC)

ClinVar variants:Revealing mutagenic patterns

GO Term of Dopa decarboxylase (DDC)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	aromatic-L-amino-acid decarboxylase activity	Function	-
2	Homo sapiens	IDA	enables	aromatic-L-amino-acid decarboxylase activity	Function	16338639
3	Homo sapiens	IEA	enables	aromatic-L-amino-acid decarboxylase activity	Function	-
4	Homo sapiens	TAS	enables	aromatic-L-amino-acid decarboxylase activity	Function	7567987
5	Homo sapiens	IPI	enables	protein binding	Function	12864730 19703902
6	Homo sapiens	IBA	is_active_in	cytoplasm	Component	-
7	Homo sapiens	IEA	located_in	cytoplasm	Component	-
8	Homo sapiens	TAS	located_in	cytosol	Component	-
9	Homo sapiens	IEA	involved_in	amino acid metabolic process	Process	-
10	Homo sapiens	IBA	involved_in	catecholamine metabolic process	Process	-
11	Homo sapiens	IEA	enables	lyase activity	Function	-
12	Homo sapiens	IEA	enables	carbon-carbon lyase activity	Function	-
13	Homo sapiens	IEA	enables	carboxy-lyase activity	Function	-
14	Homo sapiens	IEA	involved_in	carboxylic acid metabolic process	Process	-
15	Homo sapiens	IPI	enables	enzyme binding	Function	19703902
16	Homo sapiens	IEA	enables	pyridoxal phosphate binding	Function	-
17	Homo sapiens	IDA	enables	5-hydroxy-L-tryptophan decarboxylase activity	Function	16338639
18	Homo sapiens	IEA	enables	5-hydroxy-L-tryptophan decarboxylase activity	Function	-
19	Homo sapiens	IDA	enables	L-dopa decarboxylase activity	Function	19703902
20	Homo sapiens	IEA	enables	L-dopa decarboxylase activity	Function	-
21	Homo sapiens	IEA	involved_in	biogenic amine biosynthetic process	Process	-
22	Homo sapiens	IDA	involved_in	dopamine biosynthetic process	Process	19703902
23	Homo sapiens	IEA	involved_in	dopamine biosynthetic process	Process	-
24	Homo sapiens	IEA	involved_in	catecholamine biosynthetic process	Process	-
25	Homo sapiens	IBA	involved_in	serotonin biosynthetic process	Process	-
26	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867