KEGG   VARIANT: 3709v1
Entry
3709v1                      Variant                                
Name
ITPR2 mutation
Type
Loss of function
Gene
ITPR2  inositol 1,4,5-trisphosphate receptor type 2 [KO:K04959]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600144
Network
nt06528  Calcium signaling
Disease
H02281  Isolated anhidrosis with normal sweat glands
Reference
PMID:25329695
  Authors
Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N
  Title
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
  Journal
J Clin Invest 124:4773-80 (2014)
DOI:10.1172/JCI70720
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