Structural highlights
6i35 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
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| Method: | X-ray diffraction, Resolution 2Å |
| Ligands: | BCT, EDO, GOL, PEG, PLG |
| Resources: | FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT |
Disease
GCSP_HUMAN Atypical glycine encephalopathy;Infantile glycine encephalopathy;Neonatal glycine encephalopathy. The disease is caused by mutations affecting the gene represented in this entry.
Function
GCSP_HUMAN The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH).[1] [2] [3]
References
- ↑ Kume A, Koyata H, Sakakibara T, Ishiguro Y, Kure S, Hiraga K. The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures. J Biol Chem. 1991 Feb 15;266(5):3323-9. PMID:1993704
- ↑ Kure S, Narisawa K, Tada K. Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1176-82. PMID:1996985
- ↑ Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Perez B, Perez-Cerda C, Rodriguez-Pombo P. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20. PMID:28244183 doi:https://dx.doi.org/10.1002/humu.23208
