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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
GYPC - Glycophorin C (Gerbich Blood Group)
Alias:
GE
GPC
GPD
GYPD
CD236
PAS-2
CD236R
PAS-2'
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Glycophorin C (GYPC) 是一种整合膜糖蛋白。它是人类红细胞中的一种次要物种,但在调节红细胞机械稳定性方面起着重要作用。已经描述了许多Glycophorin C突变。Gerbich和Yus表型分别由于缺失外显子3和2引起。Webb和Duch抗原,也称为Glycophorin D,是由Glycophorin C基因的单点突变产生的。Glycophorin C蛋白与Glycophorins A和B的同源性非常低。交替剪接导致多种转录变体。[由RefSeq提供,2012年2月]
Related ID:
NCBI:2995
ENSEMBL:ENSG00000136732
HGNC:4704
UNIPROT:P04921
OMIM:110750
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2995
5
4
40510 bp
13.81
28
3
4
24
GYPC Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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