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中文人类
CACNA1F - Calcium Voltage-gated Channel Subunit Alpha1 F
Alias:
JM8
OA2
AIED
COD3
COD4
JMC8
CORDX
CSNB2
CORDX3
CSNB2A
CSNBX2
Cav1.4
Cav1.4alpha1
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这个基因编码一个多跨膜蛋白，作为电压依赖性钙通道的alpha-1亚基，调节钙离子进入细胞。编码的蛋白质以1:1:1:1的比例与alpha-1、alpha-2/delta、beta和gamma亚基形成复合物。这个基因的突变可能导致X连锁眼疾，包括先天性静止性夜盲2A型、锥杆营养不良和阿兰岛眼病。观察到了编码多种异构体的可变剪接转录本。[RefSeq，2013年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CACNA1F 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
