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ITPR1 - Inositol 1,4,5-trisphosphate Receptor Type 1
Alias:
ACV
CLA4
IP3R
IP3R1
SCA15
SCA16
SCA29
INSP3R1
PPP1R94
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This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ITPR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
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Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
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CDS(bp)
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Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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References Literature
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