G6PD

GENE INFORMATION

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Gene name

G6PD (HGNC Symbol)

Synonyms

G6PD1

Description

glucose-6-phosphate dehydrogenase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

153759606 - 153775787

Ensembl

ENSG00000160211 (version 73.37)

Entrez gene

2539

UniProt

P11413 (UniProt - Evidence at protein level)

neXtProt

NX_P11413

Antibodypedia

G6PD antibodies
 

PROTEIN VIEW

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G6PD-001
 
G6PD-002
 
G6PD-005
 
G6PD-006
 
G6PD-007
 
G6PD-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

G6PD-001 ENSP00000377192
ENST00000393562
P11413
Show all »
Show » Show » 545 62.5 No 0
G6PD-002 ENSP00000395599
ENST00000439227
E7EUI8
Show all »
Show » 339 38.5 No 0
G6PD-005 ENSP00000394690
ENST00000433845
E9PD92
Show all »
Show » 256 29.5 No 0
G6PD-006 ENSP00000377194
ENST00000393564
P11413
Show all »
Show » Show » 515 59.3 No 0
G6PD-007 ENSP00000400648
ENST00000440967
E7EM57
Show all »
Show » 320 36.5 No 0
G6PD-010 ENSP00000358633
ENST00000369620
P11413
Show all »
Show » Show » 561 63.8 No 0