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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
Tmc1 - transmembrane channel-like gene family 1
Alias:
dn
Bth
CWEA1
TMC1ex1
Beethoven
4933416G09Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活电压门控钙通道活性。参与机械敏感离子通道活性。在几个过程的上游或内部发挥作用,包括听觉受体细胞发育;检测涉及声音感知的感觉刺激;和前庭反射。位于质膜外表面和立体细胞的尖端。在感觉器官和骨骼中表达。用于研究常染色体显性非综合征性耳聋36和常染色体隐性非综合征性耳聋7。该基因的人类同源物与常染色体显性非综合征性耳聋36、常染色体隐性非综合征性耳聋7和感音神经性听力损失有关。与人类TMC1(类似1的跨膜通道)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:13409
ENSEMBL:ENSMUSG00000024749
UNIPROT:Q8R4P5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
13409
2
21
170747 bp
87.26
16
9
Tmc1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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