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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
人类
ARHGAP42 - Rho GTPase Activating Protein 42
Alias:
AD031
GRAF3
TMEM133
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种Rho GTP酶激活蛋白(RhoGAP),属于GRAF或BAR-PH家族蛋白质。这个基因在血管平滑肌细胞中的表达丰富,其编码的蛋白质抑制RhoA活性,以调节血管紧张性和控制血压。这个基因的第一个内含子的突变调节其表达,并与患有临界高血压的患者的降低的血压有关。[由RefSeq,2017年7月提供]
Related ID:
NCBI:143872
ENSEMBL:ENSG00000165895
HGNC:26545
UNIPROT:A6NI28
OMIM:615936
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
143872
5
24
306654 bp
98.57
30
--
6
5
ARHGAP42 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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