PRKAR1A | definition of PRKAR1A by Medical dictionary
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PRKAR1A A gene on chromosome 17q23-q24 that encodes one of the regulatory subunits that comprise cAMP-dependent protein kinase. This enzyme transduces activating signals by phosphorylating different target proteins. PRKAR1A downregulates expression of liver genes in hepatoma/fibroblast hybrids.
PRKAR1A mutations cause Carney complex; it can fuse to the RET proto-oncogene by gene rearrangement and form PTC2, a thyroid tumour-specific chimeric oncogene.
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References in periodicals archive
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A
): An update.
iPPSD4: Mutation in PRKAR1A
leading reduced PKA activity.
Since then, two distinct genetic and phenotypic subtypes of acrodysostosis have been differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A
, and acrodysostosis type 2 caused by mutations in PDE4D.
The diagnosis can also be established if patients demonstrate a single manifestation and has a "first hit" through either an affected first-degree relative or an inactivating PRKAR1A
Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A