Gene: GTPBP4

Alternate names for this Gene: CRFG|NGB|NOG1

Gene Summary: GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target.

Gene is located in Chromosome: 10

Location in Chromosome : 10p15.3

Description of this Gene: GTP binding protein 4

Type of Gene: protein-coding

Gene: IDI2

Alternate names for this Gene: IPPI2

Gene Summary: The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis.

Gene is located in Chromosome: 10

Location in Chromosome : 10p15.3

Description of this Gene: isopentenyl-diphosphate delta isomerase 2

Type of Gene: protein-coding

rs1044261 in GTPBP4;IDI2 gene and Creatinine measurement, serum (procedure) PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs1044261 in GTPBP4;IDI2 gene and Glomerular Filtration Rate PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs1044261 in GTPBP4;IDI2 gene and Kidney Failure, Chronic PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.