About   Help   FAQ
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
  • Alliance
    gene page
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
    UniProt: P20711

  • Chr Location
    7p12.2-p12.1; chr7:50458436-50565460 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Ddc mouse models; 1 with human DDC associations

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    41 phenotypes from 3 alleles in 4 genetic backgrounds
    13 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
less
  • All GO Annotations
    24
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
less
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
    124
  • cDNA Data
    53
  • Literature Summary
    44
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
      (term hierarchy)
    • 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
      IPR015422 Pyridoxal phosphate-dependent transferase domain 1
      IPR015421 Pyridoxal phosphate-dependent transferase, major domain
    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 88
      Developmental Gene Expression 44
      Diseases 1
      Gene Ontology 7
      Phenotypes 13
    • 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:250494 Caine C, et al., A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. Hum Mol Genet. 2017 Nov 15;26(22):4406-4415
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    05/15/2018
    MGI 6.12     		The Jackson Laboratory