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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
MUC21 - Mucin 21, Cell Surface Associated
Alias:
MUC-21
KMQK697
C6orf205
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个大型膜结合糖蛋白,属于黏蛋白家族成员。黏蛋白是O-糖基化蛋白质,在上皮细胞表面形成保护性黏液屏障中起重要作用。这些蛋白质还在细胞内信号传导中发挥作用。编码的蛋白质包含一个N-端信号序列,一个细胞外黏蛋白结构域,一个茎结构域,一个跨膜结构域,和一个C-端细胞质尾结构域。黏蛋白结构域包含O-糖基化位点,并且具有异构体,这些异构体含有可变数量的15个氨基酸的重复序列。这个基因的异常表达与肺腺癌有关。[RefSeq提供,2017年5月]
Related ID:
NCBI:394263
ENSEMBL:ENSG00000204544
HGNC:21661
UNIPROT:Q5SSG8
OMIM:616991
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
394263
1
3
6186 bp
54.23
63
--
3
5
MUC21 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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