Preferred Label : PRKAR1A wt Allele;
NCIt synonyms : Carney Complex Type 1 Gene; ADOHR; TSE1; CNC1; Protein Kinase A Type 1a Regulatory Subunit Gene; DKFZp779L0468; CNC; MGC17251; PPNAD1; CAR; PRKAR1; PKR1; Protein Kinase A, RI-Alpha Subunt Gene; cAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain Gene; Tissue Specific Extinguisher 1 Gene; Protein Kinase, cAMP-Dependent, Regulatory, Type I, Alpha (Tissue Specific Extinguisher
1) Gene; ACRDYS1; Protein Kinase cAMP-Dependent Type I Regulatory Subunit Alpha wt Allele; Protein Kinase, cAMP-Dependent, Regulatory Subunit Type I Alpha Gene; Protein Kinase, cAMP-Dependent, Regulatory, Type I, Alpha Gene; Prkar1alpha; cAMP-Dependent Protein Kinase Regulatory Subunit RIalpha Gene;
NCIt definition : Human PRKAR1A wild-type allele is located within 17q23-q24 and is approximately 21
kb in length. This allele, which encodes cAMP-dependent protein kinase type I-alpha
regulatory subunit protein, is involved in the modulation of protein kinase A activation.
Mutation of the gene is associated with Carney complex type 1, intracardiac myxoma,
and primary pigmented nodular adrenocortical disease type 1. Papillary thyroid carcinoma
is associated with a chromosomal translocation of this gene and the RET gene. A chromosomal
aberration affecting this gene and the RARA gene is associated with acute promyelocytic
leukemia.;
GenBank Accession Number : NM_002734;
Origin ID : C97743;
UMLS CUI : C3273602;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
