GeneID: 218



Names

Common Name: G6PD Type: Gene
Chromosome: X (NC_000023.11) Locus: NG_009015.2 (G6PD)
HUGO Symbol: G6PD Full Name: glucose-6-phosphate dehydrogenase
Exons: 13 Introns: 12

Description:
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.

Synonyms: G6PD1

Comments:
N/A

Sequence Viewer

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Publications / Origin

The are no peer-reviewed publications available for this gene.

Created on 2017-02-21 12:02:50, Last reviewed on (Show full history)


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