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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
TECTA - Tectorin Alpha
Alias:
DFNA8
DFNA12
DFNB21
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
耳蜗膜是内耳的一种细胞外基质,与特化的感觉毛细胞接触。声音引起这些毛细胞相对于耳蜗膜的运动,弯曲听骨,导致毛细胞膜电位的变化,将声音转化为电信号。Alpha-tectorin是耳蜗膜的主要非胶原成分之一。TECTA基因的突变已被证明是常染色体显性非综合征性听力损伤和感音神经性预舌非综合征性失聪的隐性形式的原因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7007
ENSEMBL:ENSG00000109927
HGNC:11720
UNIPROT:O75443
OMIM:602574
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7007
1
24
90248 bp
239.53
884
7
11
15
TECTA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
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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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