9kr7

Structural highlights

Disease

SC6A8_HUMAN X-linked creatine transporter deficiency. The disease is caused by variants affecting the gene represented in this entry.

Function

SC6A8_HUMAN Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity).[UniProtKB:Q8VBW1]^{[1] [2] [3] [4] [5] [6]}

References

1. ↑ Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat. 2007 Sep;28(9):890-6. PMID:17465020 doi:10.1002/humu.20532
2. ↑ Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brulé E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. J Inherit Metab Dis. 2013 Jan;36(1):103-12. PMID:22644605 doi:10.1007/s10545-012-9495-9
3. ↑ DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. Gene. 2015 Jul 10;565(2):187-91. PMID:25861866 doi:10.1016/j.gene.2015.04.011
4. ↑ Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S, Roeske WR, et al.. The cloning and expression of a human creatine transporter. Biochem Biophys Res Commun. 1994 Oct 14;204(1):419-27. PMID:7945388 doi:10.1006/bbrc.1994.2475
5. ↑ Nash SR, Giros B, Kingsmore SF, Rochelle JM, Suter ST, Gregor P, Seldin MF, Caron MG. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Recept Channels. 1994;2(2):165-74 PMID:7953292
6. ↑ Dai W, Vinnakota S, Qian X, Kunze DL, Sarkar HK. Molecular characterization of the human CRT-1 creatine transporter expressed in Xenopus oocytes. Arch Biochem Biophys. 1999 Jan 1;361(1):75-84. PMID:9882430 doi:10.1006/abbi.1998.0959