Gnas Gene

+Mutations in the Gnas gene are associated with a spectrum of human [Genetic Disorder](/wiki/genetic-disorder)s, often characterized by distinct clinical presentations depending on the specific mutation and parental origin due to genomic [Imprinting](/wiki/imprinting). These conditions include [Pseudohypoparathyroidism](/wiki/pseudohypoparathyroidism) (PHP), where individuals show resistance to [Parathyroid Hormone](/wiki/parathyroid-hormone) and other hormones. A related condition is [Albright Hereditary Osteodystrophy](/wiki/albright-hereditary-osteodystrophy) (AHO), characterized by short stature, brachydactyly, and ectopic [Ossification](/wiki/ossification). Notably, [Pseudopseudohypoparathyroidism](/wiki/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](/wiki/progressive-osseous-heteroplasia) (POH). Conversely, somatic activating mutations in Gnas can lead to conditions like [McCune-Albright Syndrome](/wiki/mcune-albright-syndrome), affecting [Bone](/wiki/bone), [Skin](/wiki/skin), and [Endocrine System](/wiki/endocrine-system) function. The gene's product, Gs alpha, plays a critical role in mediating signals from [G Protein-Coupled Receptor](/wiki/g-protein-coupled-receptor)s, essential for functions ranging from [Neurotransmission](/wiki/neurotransmission) to [Hormone](/wiki/hormone) response, impacting key physiological processes like [Metabolism](/wiki/metabolism) and [Cell Growth](/wiki/cell-growth).

+- [Pseudopseudohypoparathyroidism](/wiki/pseudopseudohypoparathyroidism)

+- [G Protein-Coupled Receptor](/wiki/g-protein-coupled-receptor)

+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](/wiki/imprinting). These conditions include [Pseudohypoparathyroidism](/wiki/pseudohypoparathyroidism) (PHP), [Albright Hereditary Osteodystrophy](/wiki/albright-hereditary-osteodystrophy) (AHO), and [Progressive Osseous Heteroplasia](/wiki/progressive-osseous-heteroplasia) (POH). Conversely, somatic activating mutations in Gnas can lead to conditions like [McCune-Albright Syndrome](/wiki/mccune-albright-syndrome), affecting [Bone](/wiki/bone), [Skin](/wiki/skin), and [Endocrine System](/wiki/endocrine-system) function. The gene's product, Gs alpha, plays a critical role in mediating signals from [G Protein-Coupled Receptor](/wiki/g-protein-coupled-receptor), essential for functions ranging from [Neurotransmission](/wiki/neurotransmission) to [Hormone](/wiki/hormone) response.

+- [Pseudohypoparathyroidism](/wiki/pseudohypoparathyroidism)

+- [G Protein](/wiki/g-protein)

+- [Genetic Disorder](/wiki/genetic-disorder)

+- [Imprinting](/wiki/imprinting)

+The **Gnas gene** provides instructions for a key [Protein](/wiki/protein) crucial for cellular communication. It acts as a messenger within the cell, translating external signals into internal responses. This essential [Gene](/wiki/gene) is vital for various biological [Signaling](/wiki/signaling) pathways, impacting hormone action and metabolic regulation.

+## See also

+- [DNA](/wiki/dna)

+- [Cell](/wiki/cell)

+- [Hormone](/wiki/hormone)