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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
S100A12 - S100 Calcium Binding Protein A12
Alias:
p6
CAGC
CGRP
MRP6
CAAF1
MRP-6
ENRAGE
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是S100蛋白质家族的一员,含有2个EF手钙结合结构域。S100蛋白质定位在广泛细胞类型的细胞质和/或细胞核中,并参与许多细胞过程的调节,如细胞周期进展和分化。S100基因包括至少13个成员,位于染色体1q21上的一个簇中。这个蛋白质被认为涉及特定的钙依赖信号传导途径,其对细胞骨架成分的调控作用可能调节各种中性粒细胞的活性。该蛋白质还包括具有抗菌活性的抗菌肽。[由RefSeq,2014年11月提供]
Related ID:
NCBI:6283
ENSEMBL:ENSG00000163221
HGNC:10489
UNIPROT:P80511
OMIM:603112
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6283
1
3
1911 bp
10.57
7
--
--
23
S100A12 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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