KEGG   VARIANT: 128674v1
Entry
128674v1                      Variant                              

Name
PROKR2 mutations
Gene
PROKR2  prokineticin receptor 2 [KO:K08380]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 128674
Network
nt06361  Hypogonadotropic hypogonadism
  Element
N00881  Mutation-inactivated PROKR2 to PROK-PRKR-Gi-ERK signaling pathway
Reference
  Authors
Dode C, Rondard P
  Title
PROK2/PROKR2 Signaling and Kallmann Syndrome.
  Journal
Front Endocrinol (Lausanne) 4:19 (2013)
DOI:10.3389/fendo.2013.00019
Reference
  Authors
Abreu AP, Kaiser UB, Latronico AC
  Title
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.
  Journal
Neuroendocrinology 91:283-90 (2010)
DOI:10.1159/000308880
Reference
  Authors
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N
  Title
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
  Journal
J Clin Endocrinol Metab 93:3551-9 (2008)
DOI:10.1210/jc.2007-2654
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