Log In|Sign Up
中文人类
RYR1 - Ryanodine Receptor 1
Alias:
CCO
KDS
MHS
RYR
MHS1
RYDR
SKRR
RYR-1
CMYP1A
CMYP1B
PPP1R137
Favorite
这个基因编码一种在骨骼肌中发现的肌浆网钙释放通道。该编码蛋白在肌浆网中起到钙释放通道的作用，同时也连接肌浆网和横小管。这个基因的突变与恶性高热易感性、中央核心病和伴有外眼肌麻痹的小核心肌病有关。已经描述了编码不同异构体的可变剪接转录本。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RYR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
