Gene: SLC34A1

Alternate names for this Gene: FRTS2|HCINF2|NAPI-3|NPHLOP1|NPT2|NPTIIa|SLC11|SLC17A2

Gene Summary: This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: solute carrier family 34 member 1

Type of Gene: protein-coding

Gene: F12

Alternate names for this Gene: HAE3|HAEX|HAF

Gene Summary: This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: coagulation factor XII

Type of Gene: protein-coding

Gene: GRK6

Alternate names for this Gene: GPRK6

Gene Summary: This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: G protein-coupled receptor kinase 6

Type of Gene: protein-coding