KEGG   VARIANT: 2516v1
Entry
2516v1                      Variant                                
Name
NR5A1 mutation
Gene
NR5A1  nuclear receptor subfamily 5 group A member 1 [KO:K08560]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 184757
Network
nt06310  CRH-ACTH-cortisol signaling
Disease
H02316  Adrenal insufficiency, NR5A1 related
Reference
PMID:11038323
  Authors
Biason-Lauber A, Schoenle EJ
  Title
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
  Journal
Am J Hum Genet 67:1563-8 (2000)
DOI:10.1086/316893
Reference
PMID:10369247
  Authors
Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL
  Title
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
  Journal
Nat Genet 22:125-6 (1999)
DOI:10.1038/9629
Reference
PMID:11932325
  Authors
Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL
  Title
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
  Journal
J Clin Endocrinol Metab 87:1829-33 (2002)
DOI:10.1210/jcem.87.4.8376
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