KEGG   VARIANT: 3710v1
Entry
3710v1                      Variant                                
Name
ITPR3 mutation
Type
Loss of function
Gene
ITPR3  inositol 1,4,5-trisphosphate receptor type 3 [KO:K04960]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147267
Network
nt06528  Calcium signaling
Disease
H00264  Charcot-Marie-Tooth disease
Reference
  Authors
Qu HQ, Marchand L, Szymborski A, Grabs R, Polychronakos C
  Title
The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II.
  Journal
Genes Immun 9:264-6 (2008)
DOI:10.1038/gene.2008.12
Reference
  Authors
Ronkko J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, Tyynismaa H, Ylikallio E
  Title
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
  Journal
Ann Clin Transl Neurol 7:1962-1972 (2020)
DOI:10.1002/acn3.51190
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