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GNAS

MIM.139320 20q13.2

GNAS1, NESP55, NESP-55, neuroendocrine secretory protein-55

 

Guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins.

The activity of hormone-sensitive adenylate cyclase is regulated by at least 2 G proteins, 1 stimulatory (Gs) and 1 inhibitory (Gi) (MIM.139310). A third G protein, Go (MIM.139311), is abundant in brain.

Each G protein is a heterotrimer composed of an alpha, beta, and gamma subunit. The GNAS1 gene encodes the alpha subunit of the G stimulatory protein Gs.

Neuroendocrine secretory protein-55 (NESP-55), the latest addition to the chromogranin family, is a product of a genomically imprinted gene transcribed exclusively from the maternal allele.

Expression in tumors

-  pheochromocytoma
-  pancreatic endocrine tumors
-  neuroblastomas (50%) (#12771991#)

Pathology

-  heterozygous deactivating GNAS1 mutations in Albright hereditary osteodystrophy (AHO)

-  mutations in fibrous dysplasia
-  liposclerosing myxofibrous tumor (#14652823#)

-  mutations of GNAS1

|GNAS1|Albright hereditary osteodystrophy| |GNAS1|pseudohypoparathyroidism type Ia (PHP Ia)| |GNAS1|pseudopseudohypoparathyroidism (PPHP)| |GNAS1|pituitary tumors| |GNAS1|fibrous dysplasia| |GNAS1|liposclerosing myxofibrous tumor|

Références

-  Srivastava A, Padilla O, Fischer-Colbrie R, Tischler AS, Dayal Y. Neuroendocrine secretory protein-55 (NESP-55) expression discriminates pancreatic endocrine tumors and pheochromocytomas from gastrointestinal and pulmonary carcinoids. Am J Surg Pathol. 2004 Oct;28(10):1371-8. PMID: #15371954#



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