GNG13

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Description

The GNG13 (G protein subunit gamma 13) is a protein-coding gene located on chromosome 16.

GNG13, encoded by the GNG13 gene in humans, represents the gamma-13 subunit of guanine nucleotide-binding protein G(I)/G(S)/G(O). It has been shown to interact with GNB5.

G proteins are crucial components of various transmembrane signaling pathways, acting as modulators or transducers. The beta and gamma subunits play essential roles in the GTPase activity, facilitating the exchange of GDP for GTP, and mediating interactions between G proteins and downstream effectors.

GNG13 is also known as G(gamma)13, HG3J, h2-35.

Associated Diseases

• endometrial cancer
• ovarian cancer
• glycogen storage disorder due to hepatic glycogen synthase deficiency
• 46,XX ovotesticular disorder of sex development
• Mayer-Rokitansky-Kuster-Hauser syndrome
• gastrointestinal stromal tumor
• familial partial lipodystrophy, Kobberling type
• testicular agenesis
• 46,XY complete gonadal dysgenesis
• caudal duplication
• diabetes mellitus, permanent neonatal 4