Glucose 6-phosphate dehydrogenase deficiency

Gene Information

Names

HUGO name: G6PD

Alias(es):

  • G6PD1
  • Glucose-6-phosphate dehydrogenase
  • Glucose-6-phosphate 1-dehydrogenase

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power.

Catalytic activity:

D-glucose 6-phosphate + NADPH(+) = d-glucono-1,5-lactone 6-phosphate + NADPH.

Subunit:

Homodimer or homotetramer.

Alternative products:

2 isoforms; a long form and short form; are produced by alternative splicing. The isoforms are found in different tissues.

Pathway:

Pentose phosphate pathway.

Expression

Expression pattern for human

Tissue Expression (%) Clones
eye, cornea 11.72 1:451
leukopheresis 8.12 7:4557
whole blood 6.48 3:2445
lung, cell line 6.03 1:876
blood, white cells 5.81 1:910
B cells from burkitt lymphoma 4.93 2:2143
T cells from T cell leukemia 4.41 2:2397
esophagus 3.58 2:2949
blood 3.34 8:12646
leukocyte 2.94 5:8982