SLC20A2

Template:PBB Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the SLC20A2 gene.

Genomics

This gene is found on the short arm of chromosome 8 (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons. Recently, Wang et al.(2012) reported 7 diferent mutations in SLC20a2 gene in various families with idiopathic basal ganglia calcification ("Fahr´s Disease), originally from China, Brasil and Spain. This finding suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.

Molecular biology

The protein acts as a homodimer and is involved in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis.

See also

• Solute carrier family

References

Cheng Wang, Yulei Li, Lei Shi, Jie Ren, Monica Patti, Tao Wang, João R M de Oliveira, María-Jesús Sobrido, Beatriz Quintáns, Miguel Baquero, Xiaoniu Cui, Xiang-Yang Zhang, Lianqing Wang, Haibo Xu, Junhan Wang, Jing Yao, Xiaohua Dai, Juan Liu, Lu Zhang, Hongying Ma, Yong Gao, Xixiang Ma, Shenglei Feng, Mugen Liu, Qing K Wang et al.Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature Genetics (2012) doi:10.1038/ng.1077