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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
Hspg2 - perlecan (heparan sulfate proteoglycan 2)
Alias:
Pcn
Plc
per
HSPG
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有蛋白酶结合活性。参与受体介导的内吞作用。在几个过程的上游或内部发挥作用,包括动物器官发育;细胞外基质组织;和骨骼系统发育。位于基底膜中。在几个结构中表达,包括消化系统;心血管系统;早期概念期;生殖泌尿系统;和神经系统。用于研究Schwartz-Jampel综合征1;Silverman-Handmaker型分段发育异常;大动脉反向转位;和死亡手指发育异常。这个基因的人类同源物与Schwartz-Jampel综合征1;Silverman-Handmaker型分段发育异常;和骨软骨发育异常有关。与人类HSPG2(硫酸肝素蛋白多糖2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:15530
ENSEMBL:ENSMUSG00000028763
UNIPROT:Q05793
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
15530
4
97
101880 bp
398.29
12
21
Hspg2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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