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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
Serpinh1 - serine (or cysteine) peptidase inhibitor, clade H, member 1
Alias:
J6
Cbp1
Cbp2
gp46
Hsp47
BERF-1
Serpinh2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活未折叠蛋白结合活性。在几个过程的上游或内部发挥作用,包括参与骨形态发生症的软骨细胞发育、胶原生物合成过程和胶原原纤维组织。位于内质网中。在几个结构中表达,包括中枢神经系统、胚胎间充质、眼睛、下颌牙齿和骨架。用于研究骨脆病10型。这个基因的人类同源物与骨脆病10型和早孕膜早破有关。与人类SERPINH1(丝氨酸蛋白酶抑制剂家族H成员1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12406
ENSEMBL:ENSMUSG00000070436
UNIPROT:P19324
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12406
10
6
7739 bp
46.53
4
10
Serpinh1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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