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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
NBR1 - NBR1 Autophagy Cargo Receptor
Alias:
IAI3B
M17S2
MIG19
1A1-3B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质最初被鉴定为卵巢癌中监测的卵巢肿瘤抗原。编码的蛋白质含有B-box/coiled-coil基序,存在于许多具有转化潜力的基因中。它通过与非泛素化自噬底物形成细胞内包涵体,作为过氧化物酶体选择性的自噬降解的特异性自噬受体发挥作用。这个基因位于17号染色体的一个区域,靠近BRCA1肿瘤抑制基因。这个基因的可变剪接导致多个转录变异体。[RefSeq,2014年4月提供]
Related ID:
NCBI:4077
ENSEMBL:ENSG00000188554
HGNC:6746
UNIPROT:Q14596
OMIM:166945
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4077
9
21
41280 bp
107.41
45
--
8
20
NBR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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No Data Found!
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