Recombinant Human Protein Kinase A regulatory subunit I alpha (ab125532)

Four types of regulatory chains are found: I-alpha, I-beta, II-alpha, and II-beta. Their expression varies among tissues and is in some cases constitutive and in others inducible.

Defects in PRKAR1A are the cause of Carney complex type 1 (CNC1) [MIM:160980]. CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.
Defects in PRKAR1A are the cause of intracardiac myxoma (INTMYX) [MIM:255960]. Inheritance is autosomal recessive.
Defects in PRKAR1A are the cause of primary pigmented nodular adrenocortical disease type 1 (PPNAD1) [MIM:610489]. Primary pigmented nodular adrenocortical disease is a rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. PPNAD1 is most often diagnosed in patients with Carney complex, but it can also be observed in patients without other manifestations or familial history.

Belongs to the cAMP-dependent kinase regulatory chain family.
Contains 2 cyclic nucleotide-binding domains.

The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity.