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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
Mbtps2 - membrane-bound transcription factor peptidase, site 2
Alias:
9630032G22Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有预测的金属内肽酶活性。参与几个过程,包括骨成熟;膜蛋白细胞内域蛋白水解;和转录,基于DNA的调控。位于高尔基膜和内质网膜上。在细胞质中活跃。在几个结构中表达,包括大脑;泌尿系统;血淋巴样系统腺体;肝脏;和肺。该基因的人类同源物涉及X连锁毛囊状旋毛状秃头角化症;X连锁毁容掌跖角化病伴口腔周围角化病斑块;毛囊性鱼鳞病-脱发-光敏综合征1;和骨发育不全19型。与人类MBTPS2(膜结合转录因子肽酶,位点2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:270669
ENSEMBL:ENSMUSG00000046873
UNIPROT:Q8CHX6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
270669
1
11
50894 bp
56.96
3
3
Mbtps2 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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