Description: Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA. RefSeq Summary (NM_000402): This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chrX:153,759,606-153,775,233 Size: 15,628 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chrX:153,760,215-153,775,085 Size: 14,871 Coding Exon Count: 13
Bilirubin levels Sanna ,et al. 2009, Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia, Human molecular genetics 2009 18- 14 : 2711-8.
chronic non-spherocytic haemolytic anaemia. Filosa S et al. 1994, A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia., Human genetics. 1994 Nov;94(5):560-2.
G6PD deficiency Warsy, A. S. et al. 2001, G6PD deficiency, distribution and variants in Saudi Arabia, Ann Saudi Med 2001 21(3-4) 174-7.
This study shows that G6PD deficiency is a frequently identified single-gene disorder in Saudi Arabia and G6PDA-Mediterranean is the major variant producing the severe deficiency state in this population.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11413-3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.