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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
SNX6 - Sorting Nexin 6
Alias:
TFAF2
MSTP010
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个分选神经蛋白家族的成员。这个家族的成员包含一个phox(PX)结构域,这是一个磷脂酰肌醇结合结构域,并参与细胞内转运。这个蛋白质与瘦素受体的长异构体、受体酪氨酸激酶丝氨酸-苏氨酸激酶家族转化生长因子-β家族成员以及血小板来源的生长因子、胰岛素和表皮生长因子的受体酪氨酸激酶结合。这个蛋白质可能通过PX结构域和分子螺旋卷区域的相互作用与家族成员蛋白质形成寡聚复合物。这个蛋白质与病毒整合位点1蛋白结合后,从细胞质转移到细胞核。这个基因产生两种转录本,编码两种不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:58533
ENSEMBL:ENSG00000129515
HGNC:14970
UNIPROT:Q9UNH7
OMIM:606098
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
58533
4
14
69056 bp
46.65
10
--
4
20
SNX6 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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