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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
Gja1 - gap junction protein, alpha 1
Alias:
Cx43
Npm1
Cnx43
Cxnk1
Gja-1
Cx43alpha1
connexin43
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
使多个功能成为可能,包括β-微管蛋白结合活性;谷胱甘肽跨膜转运体活性;以及支架蛋白结合活性。参与多个过程,包括动物器官发育;细胞对淀粉样β的反应;以及正调控冷诱导产热。在多个过程的上游或内部发挥作用,包括循环系统发育;基因表达调控;以及膜去极化调控。位于几个细胞组件中,包括肌动蛋白束;间隙连接;以及侧向质膜。在几个结构中表达,包括消化系统;胚胎外胚层;生殖泌尿系统;感觉器官;以及皮肤。用于研究眼齿指发育异常。这个基因的人类同源物涉及几种疾病,包括常染色体隐性颅骨骨发育异常;先天性心脏病(多种);可变红皮病(多种);眼齿指发育异常;以及掌跖角皮症和先天性无毛症1。与人类GJA1(间隙连接蛋白α1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14609
ENSEMBL:ENSMUSG00000050953
UNIPROT:P23242
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14609
2
2
13223 bp
43.00
32
27
Gja1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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