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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
RABGGTB - Rab Geranylgeranyltransferase Subunit Beta
Alias:
GGTB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码酶Rab geranylgeranyl-转移酶(RabGGTase)的β-亚基,属于蛋白质预烯基转移酶家族。RabGGTase催化Geranylgeranyl基团在Rab GTPases的C-末端半胱氨酸残基上的翻译后添加。这个基因的内含子区域存在三个小核仁RNA基因。已经观察到了这个基因的可变剪接转录变异。与这个基因相关的一个假基因位于染色体3上。[由RefSeq,2013年1月提供]
Related ID:
NCBI:5876
ENSEMBL:ENSG00000137955
HGNC:9796
UNIPROT:P53611
OMIM:179080
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5876
1
9
8897 bp
36.92
7
--
4
14
RABGGTB Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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