Structural highlights
Disease
AL4A1_HUMAN Hyperprolinemia type 2. The disease is caused by mutations affecting the gene represented in this entry.
Function
AL4A1_HUMAN Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.[1]
See Also
References
- ↑ Srivastava D, Singh RK, Moxley MA, Henzl MT, Becker DF, Tanner JJ. The Three-Dimensional Structural Basis of Type II Hyperprolinemia. J Mol Biol. 2012 Apr 16. PMID:22516612 doi:10.1016/j.jmb.2012.04.010
