PDE8B wt Allele

Preferred Label : PDE8B wt Allele;

NCIt synonyms : PIG22; ADSD; PPNAD3; Phosphodiesterase 8B wt Allele;

NCIt definition : Human PDE8B wild-type allele is located in the vicinity of 5q13.3 and is approximately 219 kb in length. This allele, which encodes high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B protein, is involved in second messenger metabolism. Mutation of the gene is associated with both autosomal dominant striatal degeneration and primary pigmented nodular adrenocortical disease 3.;

NCIt note : There is a report of a chromosomal aberration involving the GMDS gene and the PDE8B gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AF079529;

Details

Origin ID

C114557;

UMLS CUI

C3889378;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant striatal neurodegeneration [ORDO Disease]
- Autosomal dominant striatal neurodegeneration (disorder) [SNOMED CT concept]
OMIM relation
- Phosphodiesterase 8b [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
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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