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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
大鼠
Tmem67 - transmembrane protein 67
Alias:
Wpk
Mks3
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
使错误折叠蛋白质结合活性正常化。参与几个过程,包括光感受器细胞外段组织、ERAD途径的正调控以及细胞器组织的调控。位于质膜内泡膜、内质网膜和平膜。与轴丝共定位。用于研究Meckel综合征3、常染色体隐性多囊肾疾病、交通性脑积水、脑积水和蛋白尿。该基因的人类同源物涉及巴特特-比尔德综合征(多种)、教练综合征、裘伯特综合征6、Meckel综合征3和肾素病11。与人类TMEM67(跨膜蛋白67)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:313067
ENSEMBL:ENSRNOG00000016187
UNIPROT:P0C152
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
313067
5
28
52921 bp
Unknown
6
1
Tmem67 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Name
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