Description of Target |
CBS is involved in the transsulfuration pathway. The first step of this pathway, from homocysteine to cystathionine, is catalyzed by this protein. CBS deficiency can cause homocystinuria which affects many organs and tissues, including the eyes and the skeletal, vascular and central nervous systems.The protein encoded by this gene is involved in the transsulfuration pathway. The first step of this pathway, from homocysteine to cystathionine, is catalyzed by this protein. CBS deficiency can cause homocystinuria which affects many organs and tissues, including the eyes and the skeletal, vascular and central nervous systems. |
Publications |
Dahlhoff, C. et al. Hepatic methionine homeostasis is conserved in C57BL/6N mice on high-fat diet despite major changes in hepatic one-carbon metabolism. PLoS One 8, e57387 (2013). 23472083
Dahlhoff, C. et al. Methyl-donor supplementation in obese mice prevents the progression of NAFLD, activates AMPK and decreases acyl-carnitine levels. Mol. Metab. 3, 565-80 (2014). 25061561
Fernandes, V. S. et al. Endogenous hydrogen sulfide has a powerful role in inhibitory neurotransmission to the pig bladder neck. J. Urol. 189, 1567-73 (2013). 23063804
Geillinger, K. E. et al. Hepatic metabolite profiles in mice with a suboptimal selenium status. J. Nutr. Biochem. 25, 914-22 (2014). 24917045
Markand, S. et al. Cystathionine beta synthase expression in mouse retina. Curr. Eye Res. 38, 597-604 (2013). 23470016
Porteus, C. S. et al. The role of hydrogen sulphide in the control of breathing in hypoxic zebrafish (Danio rerio). J. Physiol. 592, 3075-88 (2014). 24756639
Spellman, C., Ahmed, M. M., Dubach, D. & Gardiner, K. J. Expression of trisomic proteins in Down syndrome model systems. Gene 512, 219-225 (2013). 23103828
Yamane, S., Kanno, T., Nakamura, H., Fujino, H. & Murayama, T. Hydrogen sulfide-mediated regulation of contractility in the mouse ileum with electrical stimulation: Roles of l-cysteine, cystathionine beta-synthase, and K(+) channels. Eur. J. Pharmacol. 740, 112-20 (2014). 25008073 |
Predicted Species Reactivity |
Human, Mouse, Rat, Cow, Dog, Guinea Pig, Horse, Rabbit, Yeast, Zebrafish |