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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
SLC8A1 - Solute Carrier Family 8 Member A1
Alias:
NCX1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
在心肌细胞中,Ca(2+)浓度在收缩时达到高水平,而在松弛时达到低水平。收缩时Ca(2+)浓度的增加主要由于Ca(2+)从细胞内储存库释放。然而,一些Ca(2+)也通过肌细胞膜(质膜)进入细胞。在松弛期间,Ca(2+)被隔离在细胞内储存库中。为了防止细胞内储存库过载,必须将穿过肌细胞膜进入的Ca(2+)从细胞中排出。Na(+)-Ca(2+)交换体是松弛期间从细胞中排出Ca(2+)的主要机制。在心脏中,交换体可能在数字碱作用中扮演关键角色。交换体是使心肌细胞在兴奋后恢复其静息状态的主要机制。[由OMIM于2004年4月提供]
Related ID:
NCBI:6546
ENSEMBL:ENSG00000183023
HGNC:11068
UNIPROT:P32418
OMIM:182305
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6546
23
11
415166 bp
108.55
38
--
9
10
SLC8A1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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