9k0c

Structural highlights

Disease

SC6A6_HUMAN The disease is caused by variants affecting the gene represented in this entry.

Function

SC6A6_HUMAN Mediates sodium- and chloride-dependent transport of taurine (PubMed:31345061, PubMed:31903486, PubMed:8010975, PubMed:8382624, PubMed:8654117). Mediates transport of beta-alanine (PubMed:8010975). Can also mediate transport of hypotaurine and gamma-aminobutyric acid (GABA) (By similarity).[UniProtKB:O35316]^{[1] [2] [3] [4] [5]} Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.^{[6] [7] [8]}

References

1. ↑ Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. FASEB J. 2019 Oct;33(10):11507-11527. PMID:31345061 doi:10.1096/fj.201900914RR
2. ↑ Ansar M, Ranza E, Shetty M, Paracha SA, Azam M, Kern I, Iwaszkiewicz J, Farooq O, Pournaras CJ, Malcles A, Kecik M, Rivolta C, Muzaffar W, Qurban A, Ali L, Aggoun Y, Santoni FA, Makrythanasis P, Ahmed J, Qamar R, Sarwar MT, Henry LK, Antonarakis SE. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Hum Mol Genet. 2020 Mar 13;29(4):618-623. PMID:31903486 doi:10.1093/hmg/ddz303
3. ↑ Ramamoorthy S, Leibach FH, Mahesh VB, Han H, Yang-Feng T, Blakely RD, Ganapathy V. Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta. Biochem J. 1994 Jun 15;300 ( Pt 3)(Pt 3):893-900. PMID:8010975 doi:10.1042/bj3000893
4. ↑ Jhiang SM, Fithian L, Smanik P, McGill J, Tong Q, Mazzaferri EL. Cloning of the human taurine transporter and characterization of taurine uptake in thyroid cells. FEBS Lett. 1993 Mar 1;318(2):139-44. PMID:8382624 doi:10.1016/0014-5793(93)80008-i
5. ↑ Miyamoto Y, Liou GI, Sprinkle TJ. Isolation of a cDNA encoding a taurine transporter in the human retinal pigment epithelium. Curr Eye Res. 1996 Mar;15(3):345-9. PMID:8654117 doi:10.3109/02713689609007631
6. ↑ Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. FASEB J. 2019 Oct;33(10):11507-11527. PMID:31345061 doi:10.1096/fj.201900914RR
7. ↑ Ansar M, Ranza E, Shetty M, Paracha SA, Azam M, Kern I, Iwaszkiewicz J, Farooq O, Pournaras CJ, Malcles A, Kecik M, Rivolta C, Muzaffar W, Qurban A, Ali L, Aggoun Y, Santoni FA, Makrythanasis P, Ahmed J, Qamar R, Sarwar MT, Henry LK, Antonarakis SE. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Hum Mol Genet. 2020 Mar 13;29(4):618-623. PMID:31903486 doi:10.1093/hmg/ddz303
8. ↑ Jhiang SM, Fithian L, Smanik P, McGill J, Tong Q, Mazzaferri EL. Cloning of the human taurine transporter and characterization of taurine uptake in thyroid cells. FEBS Lett. 1993 Mar 1;318(2):139-44. PMID:8382624 doi:10.1016/0014-5793(93)80008-i