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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
SNX13 - Sorting Nexin 13
Alias:
RGS-PX1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码一个包含PHOX结构域和RGS结构域的蛋白质,属于分类蛋白X (SNX)家族和G蛋白信号调节子(RGS)家族。PHOX结构域是一个磷脂酰肌醇结合结构域,SNX家族成员参与细胞内转运。RGS家族成员作为异源三聚G蛋白的Gα亚基的GTP酶激活蛋白的调节分子。该蛋白质的RGS结构域与Gα(s)相互作用,加速其GTP水解,并减弱Gα(s)介导的信号传导。过表达该蛋白质会延迟表皮生长因子受体的溶酶体降解。由于其双功能作用,该蛋白质可能连接异源三聚G蛋白信号传导和囊泡转运。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23161
ENSEMBL:ENSG00000071189
HGNC:21335
UNIPROT:Q9Y5W8
OMIM:606589
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23161
14
26
149734 bp
112.19
40
--
4
6
SNX13 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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