DDC wt Allele - CISMeF

Preferred Label : DDC wt Allele;

NCIt synonyms : Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Gene; AADC; Dopa Decarboxylase wt Allele;

NCIt definition : Human DDC wild-type allele is located in the vicinity of 7p12.2 and is approximately 107 kb in length. This allele, which encodes aromatic-L-amino-acid decarboxylase protein, is involved in monoamine neurotransmitter synthesis. Mutation of the gene is associated with aromatic L-amino-acid decarboxylase deficiency (AADCD).;

NCI Metathesaurus CUI : CL512129;

GenBank Accession Number : XM_011515161;

Détails

Origin ID

C128875;

UMLS CUI

C4283880;

Automatic exact mappings (from CISMeF team)
- Dopa decarboxylase [OMIM gene]
- dopa decarboxylase [ORDO Gene]
OMIM relation
- Dopa decarboxylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Histidine Metabolism Pathway [NCIt concept]
- Phenylalanine Metabolism Pathway [NCIt concept]
- Tryptophan Metabolism Pathway [NCIt concept]
- Tyrosine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biogenic Amine Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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