cAMP-dependent protein kinase type I-beta regulatory subunit
Developmental stage
Expressed at high levels in the pituitary, diencephalon, mesencephalon, and hypothalamus in embryos at Carnegie stage 22.
Function
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.
Involvement in disease
Marbach-Schaaf neurodevelopmental syndrome
MASNS
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, speech delay, behavioral abnormalities, hypotonia, and movement disorders including dyspraxia, apraxia, and clumsiness. More variable features include high pain tolerance, sleep disturbances, and variable non-specific dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity.
Sequence Similarities
Belongs to the cAMP-dependent kinase regulatory chain family.
Tissue Specificity
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.
Cellular localization
- Cell membrane
Alternative names
cAMP-dependent protein kinase type I-beta regulatory subunit, PRKAR1B