PRKAR1A


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Related to PRKAR1A: Carney complex

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.

Molecular pathology
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.
References in periodicals archive ?
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 gene mutation.
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 gene.
Zembowicz et al (4) had previously promulgated the term melanocytoma for what they perceived as a specific entity with chromosome 17q22-24 loss of heterozygosity, no PRKAR1A mutations, and loss of expression of R1[alpha].