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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
CD177 - CD177 Molecule
Alias:
NB1
PRV1
HNA2A
PRV-1
HNA-2a
NB1 GP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个糖基-磷酯酰肌醇(GPI)连接的细胞表面糖蛋白,在嗜中性粒细胞的激活中起作用。该蛋白可以结合血小板内皮细胞粘附分子-1,并在嗜中性粒细胞的迁移中发挥作用。这个基因的突变与骨髓增生性疾病有关。在真性红细胞过多症患者中,这个基因的过度表达被发现有。针对该蛋白的自身抗体可能导致肺转移反应,并且它可能与韦格纳肉芽肿有关。一个与该基因在染色体19上相邻的假基因已经被识别出来。[由RefSeq,2014年4月提供]
Related ID:
NCBI:57126
ENSEMBL:ENSG00000204936
HGNC:30072
UNIPROT:Q8N6Q3
OMIM:162860
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57126
3
9
12396 bp
46.36
33
--
6
22
CD177 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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