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]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
24
7
23635 bp
42.62
144
2
14
17

SERPINB6 Genetics information (-)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

Organ
Abundance
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Comparison
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