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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
SLC12A5 - Solute Carrier Family 12 Member 5
Alias:
KCC2
DEE34
EIG14
hKCC2
EIEE34
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钾-氯共同转运蛋白是一种降低细胞内氯离子浓度至低于电化学平衡电位的蛋白质。此基因编码的蛋白质是整合膜钾-氯共同转运蛋白,可以根据钾和氯的化学浓度梯度在净流出或流入途径中发挥作用。编码的蛋白质可以作为同源聚体,或者与其他钾-氯共同转运蛋白作为异源聚体,以维持神经元的氯内稳态。选择性剪接导致两个转录变异体,编码不同的异构体。[RefSeq, 2008年9月提供]
Related ID:
NCBI:57468
ENSEMBL:ENSG00000124140
HGNC:13818
UNIPROT:Q9H2X9
OMIM:606726
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57468
2
26
38465 bp
126.18
779
3
13
14
SLC12A5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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