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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
小鼠
Cacna1c - calcium channel, voltage-dependent, L type, alpha 1C subunit
Alias:
MBC
Cav1.2
Cchl1a1
MELC-CC
D930026N18Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
酶结合活性的激活因子;参与心肌细胞动作电位和突触后膜电位调节的电压门控离子通道活性;正调控腺苷酸环化酶活性。位于几个细胞组件中,包括T-管、Z盘和树突状杆。是洞状复合物的组成部分。在几个结构中表达,包括中枢神经系统、眼睛、泌尿系统和肠道。用于研究Timothy综合征。该基因的人类同源物与Brugada综合征3和Timothy综合征有关。与人类CACNA1C(钙电压门控通道α1C亚基)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12288
ENSEMBL:ENSMUSG00000051331
UNIPROT:Q01815
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12288
53
47
610145 bp
240.14
19
14
Cacna1c Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Type
Name
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