Human G6PD variant structural studies: Elucidating the molecular basis of human G6PD deficiency

• Main Authors: Alakbaree, Maysaa, Amran, Syazwani Itri, Mohd. Shamsir, Mohd. Shamsir, Ahmed, Haron H., Hamza, Muaawia, Alonazi, Mona, Warsy, Arjumand, Ab. Latif, Nurriza
• Format: Article
• Published: Elsevier Inc. 2022
• Subjects: QD Chemistry
• Online Access: http://eprints.utm.my/104223/; http://dx.doi.org/10.1016/j.genrep.2022.101634
• Institution: Universiti Teknologi Malaysia

Glucose-6-phosphate dehydrogenase deficiency is by far the most prevalent human enzymopathy and is generated by a series of point mutations in the X-linked gene encoding G6PD. The severity of the deficiency relies on the various mutational sites in the gene, affecting the protein structure and funct...