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Ddc Gene Detail
Summary
  • Symbol
    Ddc
  • Name
    dopa decarboxylase
  • Synonyms
    Aadc, aromatic L-amino acid decarboxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:94876
    NCBI Gene: 13195
Location & Maps
more
  • Sequence Map
    Chr11:11814101-11898044 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      83944 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 7.09 cM, cytoband A1-A4
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    DDC, dopa decarboxylase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DDC, dopa decarboxylase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AADC
  • Links
    NCBI Gene ID: 1644
    neXtProt AC: NX_P20711

  • Chr Location
    7p12.2; chr7:50458436-50565457 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Ddc mouse models; 1 with human DDC associations

Human Disease Mouse Models
       Aromatic L-Amino Acid Decarboxylase Deficiency   OMIM: 608643 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for one knock-out allele exhibit preweaning phenotype. Mice homozygous for a different knock-in allele exhibit partial prenatal lethality, decreased body size, postnatal growth retardation, hypoactivity, increased anxiety, tremors, decreased heart rate and decreased dopamine levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    25
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    183
  • Tissues
    123
  • cDNA Data
    53
  • Literature Summary
    40
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005164 VEGA Gene Model | MGI Sequence Detail 83944 C57BL/6J ±  kb
transcript OTTMUST00000011540 VEGA | MGI Sequence Detail 1922 Not Applicable  
polypeptide OTTMUSP00000005369 VEGA | MGI Sequence Detail 480 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    367 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000006342 aromatic-L-amino-acid decarboxylase
  • EC
    4.1.1.28
  • InterPro Domains
    IPR010977 Aromatic-L-amino-acid decarboxylase
    IPR021115 Pyridoxal-phosphate binding site
    IPR002129 Pyridoxal phosphate-dependent decarboxylase
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
    IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
Molecular
Reagents
less
  • All nucleic 66
    cDNA 58
    Primer pair 7
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-8818
References
more
  • Summaries
    All 81
    Developmental Gene Expression 40
    Diseases 1
    Gene Ontology 7
    Phenotypes 11
  • Earliest
    J:1591 Bruneau G, et al., Mapping of the dopa decarboxylase gene to the 11A band of the murine genome. Biochem Biophys Res Commun. 1992 Jul 31;186(2):926-30
  • Latest
    J:229533 Kouwenhoven WM, et al., Engrailed 1 shapes the dopaminergic and serotonergic landscape through proper isthmic organizer maintenance and function. Biol Open. 2016;5(3):279-88
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory