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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
CACNG1 - Calcium Voltage-gated Channel Auxiliary Subunit Gamma 1
Alias:
CACNLG
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压依赖性钙通道由五个亚基组成。这个基因编码的蛋白质代表其中一个亚基,γ亚基,是已知的两个γ亚基蛋白质之一。这个特定的γ亚基是骨骼肌1,4-二氢吡啶敏感的钙通道的一部分,是一种整合膜蛋白,在兴奋-收缩耦联中发挥作用。这个基因属于PMP-22/EMP/MP20家族的具有功能多样性的八成员蛋白质亚家族,并与两个作为跨膜AMPA受体调节蛋白(TARPs)起作用的家族成员聚集在一起。[RefSeq提供,2010年12月]
Related ID:
NCBI:786
ENSEMBL:ENSG00000108878
HGNC:1405
UNIPROT:Q06432
OMIM:114209
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
786
1
4
12244 bp
25.03
10
--
6
4
CACNG1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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