Gs alpha subunit: Difference between revisions

Latest revision as of 04:33, 29 December 2024

The Gs alpha subunit is a G protein subunit that activates the cAMP-dependent pathway by stimulating the activity of adenylate cyclase. This protein is encoded by the GNAS complex locus in humans.

Function[edit]

The Gs alpha subunit is a part of the heterotrimeric G protein complex, which is involved in transmitting signals from a variety of stimuli outside a cell to its interior. The Gs alpha subunit specifically activates adenylate cyclase, which in turn increases the levels of cyclic AMP (cAMP) in the cell. This increase in cAMP activates protein kinase A (PKA), leading to the phosphorylation of various target proteins and resulting in a wide range of cellular responses.

Clinical significance[edit]

Mutations in the Gs alpha subunit can lead to several disorders. For example, mutations that cause constitutive activation of the Gs alpha subunit are associated with McCune-Albright syndrome, a disorder characterized by polyostotic fibrous dysplasia, café-au-lait spots, and endocrine abnormalities.

Additionally, mutations in the Gs alpha subunit can result in pseudohypoparathyroidism, a condition where the body is resistant to the parathyroid hormone, leading to low calcium levels and high phosphate levels in the blood.

References[edit]

External links[edit]

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-== Gs alpha subunit ==
-[[File:G protein cycle.svg|thumb|right|300px|The Gs alpha subunit is part of the G protein cycle.]]
+{{Infobox protein
+| name = Gs alpha subunit
+| image = <!-- Image removed -->
+| caption = <!-- Caption removed -->
+| symbol = GNAS
+| HGNCid = 4392
+| OMIM = 139320
+| EntrezGene = 2778
+| RefSeq = NM_000516
+| UniProt = P63092
+}}
-The '''Gs alpha subunit''' (Gαs) is a [[protein]] that in humans is encoded by the GNAS [[gene]]. It is a component of the [[G protein]] complex, which plays a crucial role in [[cell signaling]] and [[cellular communication]].
+The '''Gs alpha subunit''' is a [[G protein]] subunit that activates the [[cAMP-dependent pathway]] by stimulating the activity of [[adenylate cyclase]]. This protein is encoded by the [[GNAS complex locus]] in humans.
-== Structure ==
-The Gs alpha subunit is a [[Guanosine triphosphate|GTP]]-binding protein that consists of 394 [[amino acids]]. It is part of the larger G protein complex, which also includes the beta and gamma subunits. The Gs alpha subunit is responsible for activating the [[adenylate cyclase]] enzyme when a [[G protein-coupled receptor]] (GPCR) is stimulated by a [[ligand]].
 == Function ==
+The Gs alpha subunit is a part of the heterotrimeric [[G protein]] complex, which is involved in transmitting signals from a variety of stimuli outside a cell to its interior. The Gs alpha subunit specifically activates [[adenylate cyclase]], which in turn increases the levels of [[cyclic AMP]] (cAMP) in the cell. This increase in cAMP activates [[protein kinase A]] (PKA), leading to the phosphorylation of various target proteins and resulting in a wide range of cellular responses.
-The primary function of the Gs alpha subunit is to transmit signals from GPCRs to other parts of the cell. When a ligand binds to a GPCR, it causes a conformational change in the receptor, which allows the Gs alpha subunit to exchange [[Guanosine diphosphate|GDP]] for GTP. This activates the subunit, which then dissociates from the beta and gamma subunits and binds to adenylate cyclase, activating the enzyme. This leads to an increase in the production of [[cyclic AMP]] (cAMP), a second messenger that plays a key role in many cellular processes.
 == Clinical significance ==
+Mutations in the Gs alpha subunit can lead to several disorders. For example, mutations that cause constitutive activation of the Gs alpha subunit are associated with [[McCune-Albright syndrome]], a disorder characterized by [[polyostotic fibrous dysplasia]], [[café-au-lait spots]], and [[endocrine abnormalities]].
-Mutations in the GNAS gene that encodes the Gs alpha subunit can lead to a variety of diseases, including [[McCune-Albright syndrome]], [[pseudohypoparathyroidism]], and [[Albright's hereditary osteodystrophy]]. These conditions are often characterized by hormone resistance and abnormal bone development.
+Additionally, mutations in the Gs alpha subunit can result in [[pseudohypoparathyroidism]], a condition where the body is resistant to the parathyroid hormone, leading to low calcium levels and high phosphate levels in the blood.
 == See also ==
-* [[G protein]]
 * [[G protein-coupled receptor]]
-* [[Adenylate cyclase]]
+* [[Signal transduction]]
-* [[Cyclic AMP]]
+* [[Heterotrimeric G protein]]
 == References ==
+<references />
-<references />
+== External links ==
+* {{GeneReviews|GNAS}}
+* {{OMIM|139320}}
 [[Category:G proteins]]
-[[Category:Cell signaling]]
+[[Category:Signal transduction]]
-[[Category:Proteins]]
+[[Category:Human proteins]]