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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
Tmem67 - transmembrane protein 67
Alias:
B230117O07
b2b1163.1Clo
b2b1291.1Clo
5330408M12Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现肌动蛋白结合活性;错误折叠蛋白质结合活性;以及未折叠蛋白质结合活性。参与上皮管分支形态发生;纤毛组装;以及对中心体复制的负调控。在决定左右对称性;心脏发育;和肾脏发育的上游或内部发挥作用。位于细胞质囊泡膜和内质网膜上。是MKS复合物的一部分。在间脑;后脑侧壁;肾单位;和Corti器官中表达。用于研究Joubert综合征6;Meckel综合征;囊性肾病;和内脏异构现象。这个基因的人类同源物涉及Barret-Biedl综合征(多种);COACH综合征;Joubert综合征6;Meckel综合征3;和肾素过少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:329795
ENSEMBL:ENSMUSG00000049488
UNIPROT:Q8BR76
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
329795
4
28
50666 bp
111.81
6
9
Tmem67 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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