2pla

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

1. ↑ 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
2. ↑ 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