Primary Identifier | MGI:95777 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 14683 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G protein activity and adenylate cyclase activator activity. Involved in several processes, including cellular response to glucagon stimulus; positive regulation of cold-induced thermogenesis; and positive regulation of insulin secretion. Acts upstream of or within several processes, including adenylate cyclase-activating dopamine receptor signaling pathway; positive regulation of cell differentiation; and skeletal system development. Located in dendrite and membrane. Is active in plasma membrane. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; gonad; and somite. Used to study pseudohypoparathyroidism; pseudohypoparathyroidism type 1A; pseudopseudohypoparathyroidism; and schizophrenia. Human ortholog(s) of this gene implicated in several diseases, including ACTH-independent macronodular adrenal hyperplasia 1; obesity; pituitary adenoma 3; progressive osseous heteroplasia; and pseudohypoparathyroidism (multiple). Orthologous to human GNAS (GNAS complex locus). PHENOTYPE: Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies. [provided by MGI curators] |