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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
HERC1 - HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1
Alias:
p532
p619
MDFPMR
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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HERC蛋白家族的一员。这种蛋白质刺激ARF1和Rab蛋白的鸟苷酸交换。这种蛋白质可能涉及膜运输过程。[由RefSeq,2012年3月提供]
Related ID:
NCBI:8925
ENSEMBL:ENSG00000103657
HGNC:4867
UNIPROT:Q15751
OMIM:605109
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8925
50
78
225331 bp
532.23
1101
1
7
20
HERC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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