Corresponds to p.Thr148Pro variant in human GCSH found in patients with attenuated combined nonketotic hyperglycinemia and lipoate deficiency; however, this variant is present in a region not conserved and thus not considered an adequate model in yeast
List of references used specifically to curate the information in Overview section.
Arribas-Carreira L, et al. (2023) Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. Hum Mol Genet 32(6):917-933