The Gnas gene provides instructions for a key Protein crucial for cellular communication. It acts as a messenger within the cell, translating external signals into internal responses. This essential Gene is vital for various biological Signaling pathways, impacting hormone action and metabolic regulation.
Mutations in the Gnas gene are associated with a spectrum of human Genetic Disorders, often characterized by distinct clinical presentations depending on the specific mutation and parental origin due to genomic Imprinting. These conditions include Pseudohypoparathyroidism (PHP), where individuals show resistance to Parathyroid Hormone and other hormones. A related condition is Albright Hereditary Osteodystrophy (AHO), characterized by short stature, brachydactyly, and ectopic Ossification. Notably, Pseudopseudohypoparathyroidism (PPH) presents with the physical features of AHO but without the hormonal resistance, typically occurring when the mutation is paternally inherited. Other conditions include Progressive Osseous Heteroplasia (POH). Conversely, somatic activating mutations in Gnas can lead to conditions like McCune-Albright Syndrome, affecting Bone, Skin, and Endocrine System function. The gene's product, Gs alpha, plays a critical role in mediating signals from G Protein-Coupled Receptors, essential for functions ranging from Neurotransmission to Hormone response, impacting key physiological processes like Metabolism and Cell Growth.
