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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
RAB8A - RAB8A, Member RAS Oncogene Family
Alias:
MEL
RAB8
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Basic Information
Sequence Homology
Related Diseases and Mutations
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这个基因编码的蛋白质是RAS超家族的一员,RAS超家族是小型GTP/GDP结合蛋白质,平均大小为200个氨基酸。RAB/YPT家族的RAS相关蛋白质可能在蛋白质从内质网到高尔基体和质膜的运输中发挥作用。这个蛋白质与狗的RAB8、鼠的MEL和鼠的YPT1蛋白质的相似性分别为97%、96%和51%,并包含所有RAS蛋白质中存在的4个GTP/GDP结合位点。这个蛋白质的推测效应子结合位点与RAB/YPT蛋白质相似。然而,这个蛋白质包含一个C端CAAX基序,这是许多RAS超家族成员的特征,但在YPT1和大多数RAB蛋白质中不存在。尽管这个基因作为黑色素瘤细胞系的转化基因被分离出来,但MEL和恶性黑色素瘤之间的联系尚未得到证实。这个癌基因位于染色体19p13.1上的MY09B下游800kb处。[RefSeq,2008年7月提供]
Related ID:
NCBI:4218
ENSEMBL:ENSG00000167461
HGNC:7007
UNIPROT:P61006
OMIM:165040
Basic Information
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4218
1
8
22346 bp
23.67
3
--
6
35
RAB8A Genetics information (+)
GRCh38
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* This data comes from NCBI.
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