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中文人类
ITPR1 - Inositol 1,4,5-trisphosphate Receptor Type 1
Alias:
ACV
CLA4
IP3R
IP3R1
SCA15
SCA16
SCA29
INSP3R1
PPP1R94
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这个基因编码一个细胞内肌醇1,4,5-三磷酸受体。受到肌醇1,4,5-三磷酸的刺激后，这个受体调节内质网中的钙释放。这个基因的突变导致脊髓小脑共济失调15型，这是一种与一系列异质性的小脑疾病相关的疾病。已经在这个基因中鉴定出多个转录变异体。[由RefSeq，2009年11月提供]
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
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
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Score
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Name
MGI
Strain of Origin
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CAS Number
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Phase
Link
References Literature
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