KEGG   VARIANT: 3708v2
Entry
3708v2                      Variant                                
Name
ITPR1 reduced expression
Gene
ITPR1  inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation P1068L
ClinVar: 14801
dbSNP: rs121912425
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
PMID:18579805
  Authors
Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O
  Title
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
  Journal
Neurology 71:547-51 (2008)
DOI:10.1212/01.wnl.0000311277.71046.a0
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