Structural highlights
Disease
GPD1L_HUMAN Brugada syndrome. The disease is caused by mutations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function
GPD1L_HUMAN Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L.[1] [2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Valdivia CR, Ueda K, Ackerman MJ, Makielski JC. GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. Am J Physiol Heart Circ Physiol. 2009 Oct;297(4):H1446-52. doi:, 10.1152/ajpheart.00513.2009. Epub 2009 Aug 7. PMID:19666841 doi:http://dx.doi.org/10.1152/ajpheart.00513.2009
- ↑ Liu M, Sanyal S, Gao G, Gurung IS, Zhu X, Gaconnet G, Kerchner LJ, Shang LL, Huang CL, Grace A, London B, Dudley SC Jr. Cardiac Na+ current regulation by pyridine nucleotides. Circ Res. 2009 Oct 9;105(8):737-45. Epub 2009 Sep 10. PMID:19745168 doi:http://dx.doi.org/CIRCRESAHA.109.197277
