{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T20:11:14Z","timestamp":1792267874689,"version":"4.4.0"},"reference-count":76,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T00:00:00Z","timestamp":1481241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.<\/jats:p>","DOI":"10.3390\/ijms17122069","type":"journal-article","created":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T10:15:15Z","timestamp":1481278515000},"page":"2069","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":179,"title":["Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2095-9182","authenticated-orcid":false,"given":"Sa\u00fal","family":"G\u00f3mez-Manzo","sequence":"first","affiliation":[{"name":"Laboratorio de Bioqu\u00edmica Gen\u00e9tica, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Marcial-Quino","sequence":"additional","affiliation":[{"name":"Consejo Nacional de Ciencia y Tecnolog\u00eda (CONACYT), Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"America","family":"Vanoye-Carlo","sequence":"additional","affiliation":[{"name":"Laboratorio de Neurociencias, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7901-475X","authenticated-orcid":false,"given":"Hugo","family":"Serrano-Posada","sequence":"additional","affiliation":[{"name":"Consejo Nacional de Ciencia y Tecnolog\u00eda (CONACYT), Laboratorio de Bioingenier\u00eda, Universidad de Colima, Colima 28400, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7950-4911","authenticated-orcid":false,"given":"Daniel","family":"Ortega-Cuellar","sequence":"additional","affiliation":[{"name":"Laboratorio de Nutrici\u00f3n Experimental, Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Gonz\u00e1lez-Valdez","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular y Biotecnolog\u00eda, Instituto de Investigaciones Biom\u00e9dicas, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City 04510, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4117-6689","authenticated-orcid":false,"given":"Rosa","family":"Castillo-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Consejo Nacional de Ciencia y Tecnolog\u00eda (CONACYT), Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3939-6930","authenticated-orcid":false,"given":"Beatriz","family":"Hern\u00e1ndez-Ochoa","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunoqu\u00edmica, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Sierra-Palacios","sequence":"additional","affiliation":[{"name":"Colegio de Ciencias y Humanidades, Plantel Casa Libertad, Universidad Aut\u00f3noma de la Ciudad de M\u00e9xico, Mexico City 09620, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Rodr\u00edguez-Bustamante","sequence":"additional","affiliation":[{"name":"Departamento de Qu\u00edmica de Biomacromol\u00e9culas, Instituto de Qu\u00edmica, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Circuito Exterior s\/n, Ciudad Universitaria, Mexico City 04510, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4611-4770","authenticated-orcid":false,"given":"Roberto","family":"Arreguin-Espinosa","sequence":"additional","affiliation":[{"name":"Departamento de Qu\u00edmica de Biomacromol\u00e9culas, Instituto de Qu\u00edmica, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Circuito Exterior s\/n, Ciudad Universitaria, Mexico City 04510, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2016,12,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1073\/pnas.77.5.2810","article-title":"Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase 202 and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation","volume":"77","author":"Pai","year":"1980","journal-title":"Proc. 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