DDC
entrez
1644
canonical
uniprot
P20711
canonical
ensembl
ENSG00000132437
resolver
ensp
ENSP00000350616
resolver
ensp
ENSP00000370371
resolver
ensp
ENSP00000395069
resolver
ensp
ENSP00000403644
resolver
ensp
ENSP00000478385
resolver
ensp
ENSP00000479110
resolver
ensp
ENSP00000484104
resolver
ensp
ENSP00000567795
resolver
ensp
ENSP00000567796
resolver
ensp
ENSP00000567798
resolver
ensp
ENSP00000567812
resolver
ensp
ENSP00000567813
resolver
ensp
ENSP00000567814
resolver
enst
ENST00000617822
resolver
enst
ENST00000622873
resolver
enst
ENST00000897736
resolver
enst
ENST00000897737
resolver
enst
ENST00000897754
resolver
enst
ENST00000897755
resolver
genesymbol
DDC
resolver
genesymbol_syn
AADC
resolver
hgnc
HGNC:2719
resolver
uniprot
A0A087WU57
resolver
uniprot
A0A087WV24
resolver
uniprot
A0A0S2Z3N4
resolver
uniprot
C9IYA0
resolver
uniprot
E7ER62
resolver
uniprot
E7EU95
resolver
uniprot
Q16723
resolver
uniprot
Q53Y41
resolver
uniprot
Q5W5T9
resolver
uniprot
Q75MJ6
resolver
uniprot_entry
A0A087WU57_HUMAN
resolver
uniprot_entry
A0A087WV24_HUMAN
resolver
uniprot_entry
A0A0S2Z3N4_HUMAN
resolver
uniprot_entry
DDC_HUMAN
resolver
uniprot_entry
Q53Y41_HUMAN
resolver
uniprot_sec
C9IYA0
resolver
uniprot_sec
E7ER62
resolver
uniprot_sec
E7EU95
resolver
uniprot_sec
Q16723
resolver
uniprot_sec
Q5W5T9
resolver
uniprot_sec
Q75MJ6
resolver
amino_acid_sequence
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
uniprot
proteins
disease_involvement
DISEASE: Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]: An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive. {ECO:0000269|PubMed:14991824, ECO:0000269|PubMed:15079002, ECO:0000269|Ref.12}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.1.28
uniprot
proteins
function
FUNCTION: Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin. {ECO:0000250|UniProtKB:P80041}.
uniprot
proteins
mass_dalton
53926
uniprot
proteins
pathway_participation
PATHWAY: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2. {ECO:0000250|UniProtKB:P80041}.
uniprot
proteins
protein_family
Group II decarboxylase family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
1395716
uniprot
proteins
pubmed
14991824
uniprot
proteins
pubmed
15079002
uniprot
proteins
pubmed
1540578
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15532536
uniprot
proteins
pubmed
1612608
uniprot
proteins
pubmed
22143761
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2590185
uniprot
proteins
pubmed
8510497
uniprot
proteins
sequence_length
480
uniprot
proteins