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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
RAB14 - RAB14, Member RAS Oncogene Family
Alias:
FBP
RAB-14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
RAB14属于低分子质量GTP酶的大RAB家族,参与细胞内膜转运。这些蛋白质作为分子开关,在无活性的GDP结合状态和有活性的GTP结合状态之间翻转,从而将下游效应物蛋白招募到膜上(Junutula等,2004年[PubMed 15004230])。[由OMIM于2009年3月提供]
Related ID:
NCBI:51552
ENSEMBL:ENSG00000119396
HGNC:16524
UNIPROT:P61106
OMIM:612673
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51552
1
8
23737 bp
23.90
5
--
4
14
RAB14 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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References Literature
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