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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
PCSK2 - Proprotein Convertase Subtilisin/kexin Type 2
Alias:
PC2
NEC2
SPC2
NEC 2
NEC-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于枯草杆菌类似蛋白转化酶家族的成员,该家族包括通过分泌途径的调节或组成分支处理蛋白质和肽前体的蛋白酶。该蛋白质经历初始的自催化加工事件,并与内质网上的神经内分泌分泌蛋白相互作用,然后离开内质网并分选到分泌颗粒中,在那里在细胞内运输过程中被切割并催化激活。编码的蛋白酶被包装到密集核心分泌颗粒中并在神经内分泌系统和脑中表达。这个基因编码七个基本氨基酸特异性的成员之一,这些成员在单个或成对的碱性残基处切割其底物。它参与多肽激素前体和神经肽前体的蛋白水解激活。这个基因中的单核苷酸多态性可能增加心肌梗死和2型糖尿病的易感性。这个基因可能在肿瘤发展和进展中发挥作用。已经观察到了这个基因的替代剪接转录变异体,这些变异体编码多种异构体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:5126
ENSEMBL:ENSG00000125851
HGNC:8744
UNIPROT:P16519
OMIM:162151
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5126
3
12
258472 bp
70.56
12
--
5
9
PCSK2 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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