KEGG   VARIANT: 9563v1
Entry
9563v1                      Variant                                
Name
H6PD mutation
Type
Loss of function
Gene
H6PD  hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [KO:K13937]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138090
Network
nt06019  Steroid hormone biosynthesis
Disease
H01111  Cortisone reductase deficiency
Reference
  Authors
Senesi S, Csala M, Marcolongo P, Fulceri R, Mandl J, Banhegyi G, Benedetti A
  Title
Hexose-6-phosphate dehydrogenase in the endoplasmic reticulum.
  Journal
Biol Chem 391:1-8 (2010)
DOI:10.1515/BC.2009.146
Reference
  Authors
Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM
  Title
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
  Journal
Nat Genet 34:434-9 (2003)
DOI:10.1038/ng1214
Reference
  Authors
Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM
  Title
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
  Journal
J Clin Endocrinol Metab 93:3827-32 (2008)
DOI:10.1210/jc.2008-0743
Reference
  Authors
Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP
  Title
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
  Journal
Proc Natl Acad Sci U S A 108:4111-6 (2011)
DOI:10.1073/pnas.1014934108
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