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中文人类
RAB7A - RAB7A, Member RAS Oncogene Family
Alias:
RAB7
CMT2B
PRO2706
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RAB家族成员是小RAS相关GTP结合蛋白，是囊泡运输的重要调节剂。每个RAB蛋白靶向多个在分泌/吞噬途径中发挥作用蛋白。该基因编码一个调节晚内体囊泡交通的RAB家族成员，同时也参与从晚内体到溶酶体的交通。该编码蛋白还参与幽门螺杆菌VacA细胞毒素引起的细胞空泡化。该基因中高度保守的氨基酸残基的突变导致了一些形式的Charcot-Marie-Tooth（CMT）2型神经病变。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RAB7A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
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Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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References Literature
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