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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
Prf1 - perforin 1 (pore forming protein)
Alias:
Pfn
Pfp
Prf-1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
钙离子结合活性和宽孔通道活性。参与几个过程,包括肿瘤细胞的防御反应;肿瘤细胞的免疫反应;和蛋白质同聚。在T细胞介导的细胞毒性上游发挥作用。位于溶胞颗粒和胞质囊泡中。是膜的组成部分。在输精管;附睾;皮肤;和脾脏中表达。用于研究家族性噬血细胞综合征2;多发性硬化症;和1型糖尿病。这个基因的人类同源物涉及几种疾病,包括克罗恩病;家族性噬血细胞综合征2;人类免疫缺陷病毒感染性疾病;多发性硬化症;和非郎格汉斯细胞组织细胞增生。与人类PRF1(穿孔素1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18646
ENSEMBL:ENSMUSG00000037202
UNIPROT:P10820
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18646
2
3
6934 bp
62.08
9
18
Prf1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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