Anti-GNAS antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The GNAS protein also known as GNAS complex locus or guanine nucleotide-binding protein G(s) subunit alpha (Gαs) is a highly versatile target in cellular signaling. It has a molecular mass of approximately 45 kDa. Widely expressed across various tissues including those in the brain kidneys and endocrine glands GNAS protein plays an important role in transmitting signals from receptors on cell surfaces to effector systems inside cells.

Biological function summary

GNAS protein mediates the action of hormones and neurotransmitters by activating the cyclic AMP (cAMP) signaling pathway. It forms part of the G protein complex specifically the G protein-coupled receptors (GPCRs) where it acts as the alpha subunit interacting with beta and gamma subunits. This interaction facilitates the conversion of GDP to GTP leading to downstream activation of adenylate cyclase which increases intracellular cAMP levels and triggers various cellular responses.

Pathways

GNAS protein is pivotal in the cAMP signaling pathway and the MAPK/ERK pathway. Within these pathways it works closely with adenylate cyclase enzymes which further influence numerous physiological processes such as metabolism and cell growth. The protein’s activity also interlinks with other G proteins contributing to a wide range of cellular reactions and feedback mechanisms.

Associated diseases and disorders

Mutations or dysregulation of the GNAS gene are associated with McCune-Albright syndrome and pseudohypoparathyroidism type 1a. McCune-Albright syndrome arises from somatic mutations in the GNAS gene that result in constitutively active Gαs protein leading to abnormal cellular proliferation. In pseudohypoparathyroidism the loss of GNAS protein function disrupts normal hormonal signaling causing resistance to parathyroid hormone (PTH) which impacts calcium and phosphate regulation in the body. The involvement of GNAS protein in these conditions highlights its key role in signal transduction and endocrine regulation.