The cAMP-dependent protein kinase type I-alpha regulatory subunit (protein kinase A regulatory subunit-1-alpha, PKA regulatory subunit RIα, tissue-specific extinguisher 1, TSE1) is coded by the PRKAR1A gene at 17q23-q24 . Mutations cause:
- Carney syndrome
- Primary adrenocortical nodular dysplasia typically causing Cushing's syndrome
- Some forms of familial atrial myxoma
- Acrodysostosis 1, with or without hormone resistance (ACRDYS1) - A form of skeletal dysplasia with resistance to multiple hormones
The gene product is processed into cAMP-dependent protein kinase type I-alpha regulatory subunit, N-terminally processed.
It is a component of one of four regulatory subunits of protein kinase A (PKA):
Its product is involved in signaling pathways. For example PKA regulates SMOH (Smo) cell surface accumulation and activity in response to sonic hedgehog and activation-induced cytidine deaminase (AID) in B cells .