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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
MUC1 - Mucin 1, Cell Surface Associated
Alias:
EMA
MCD
PEM
PUM
KL-6
MAM6
MCKD
PEMT
CD227
H23AG
MCKD1
MUC-1
ADMCKD
ADTKD2
Ca15-3
ADMCKD1
CA 15-3
MUC-1/X
MUC1/ZD
MUC-1/SEC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个膜结合蛋白,是黏蛋白家族的一员。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。这个蛋白表达在衬里许多不同组织(包括肺、乳腺、胃和胰腺)黏膜表面的上皮细胞的顶膜上。这个蛋白被蛋白酶切割成α和β亚基,形成异源二聚体复合物。N-端α亚基在细胞粘附中发挥作用,C-端β亚基涉及细胞信号传导。这个蛋白的过度表达、异常的细胞内定位和糖基化的改变与癌肉瘤有关。这个基因已知包含一个高度多态的可变数目串联重复(VNTR)结构域。交替剪接导致多个转录变异体。[RefSeq,2011年2月提供]
Related ID:
NCBI:4582
ENSEMBL:ENSG00000185499
HGNC:7508
UNIPROT:P15941
OMIM:158340
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
4582
21
12
7092 bp
122.10
50
1
5
57
MUC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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