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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
Plekhm1 - pleckstrin homology domain containing, family M (with RUN domain) member 1
Alias:
B2
AP162
D330036J23Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现金属离子结合活性。参与溶酶体定位;正调控骨吸收;以及正调控小瘤形成的组装。预测位于自噬溶酶体和核仁。用于研究常染色体隐性骨病6。该基因的人类同源物与常染色体隐性骨病6和骨病有关。与人类PLEKHM1(富含pleckstrin同源性和RUN结构域的M1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:353047
ENSEMBL:ENSMUSG00000034247
UNIPROT:Q7TSI1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
353047
1
12
48431 bp
118.53
8
7
Plekhm1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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