PKIG
Description
The PKIG (cAMP-dependent protein kinase inhibitor gamma) is a protein-coding gene located on chromosome 20.
PKIG encodes cAMP-dependent protein kinase inhibitor gamma, a member of the PKA inhibitor family. It acts as a potent competitive inhibitor of PKA, similar to its counterpart in mice, and is prevalent in various tissues. Three transcript variants, all encoding the same protein, have been identified.
PKIG encodes a protein that potently inhibits cAMP-dependent protein kinase (PKA) activity through competitive inhibition. This inhibition occurs after the regulatory chains of PKA dissociate due to cAMP binding, enabling the protein to interact with the catalytic subunit of PKA.
PKIG is also known as PKI-gamma.
Associated Diseases
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- severe combined immunodeficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- retinitis pigmentosa
- isolated ectopia lentis
- cataract 50 with or without glaucoma
- Coats disease
- isolated aniridia
- snowflake vitreoretinal degeneration
- birdshot chorioretinopathy
- megalocornea
