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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
SERPINB6 - Serpin Family B Member 6
Alias:
CAP
PI6
PTI
PI-6
SPI3
DFNB91
MSTP057
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是丝氨酸蛋白酶抑制剂(serpin)超家族的一员,属于卵清蛋白(ov)-丝氨酸蛋白酶抑制剂亚家族。它最初被发现是一种胎盘凝血酶抑制剂。发现小鼠同源物在内耳毛细胞中表达。这个基因的突变与非综合征性进行性听力损失有关,提示这个丝氨酸蛋白酶在内耳中起着重要作用,保护免受应激期间溶酶体内容物泄漏的影响,而失去这种保护会导致细胞死亡和感觉神经性听力损失。已发现这个基因的替代剪接转录变异体。[RefSeq,2010年9月提供]
Related ID:
NCBI:5269
ENSEMBL:ENSG00000124570
HGNC:8950
UNIPROT:P35237
OMIM:173321
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5269
24
7
23635 bp
42.62
144
2
14
17
SERPINB6 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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Name
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