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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
MUC5B - Mucin 5B, Oligomeric Mucus/gel-forming
Alias:
MG1
MUC5
MUC9
MUC-5B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因编码黏蛋白家族的一员,黏蛋白是粘液分泌物的高度糖基化的大分子成分。这个家族成员是粘液中主要的凝胶形成黏蛋白。它是全唾液、正常肺粘液和宫颈粘液的润滑和粘弹性特性的主要贡献者。已经发现这种基因在某些人类疾病中上调,包括慢性鼻窦炎(CRS)的鼻窦粘膜、伴有鼻息肉的CRS、慢性阻塞性肺病(COPD)和幽门螺杆菌相关胃病,它可能涉及这些疾病的发病机制。[RefSeq,2010年7月提供]
Related ID:
NCBI:727897
ENSEMBL:ENSG00000117983
HGNC:7516
UNIPROT:Q9HC84
OMIM:600770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
727897
1
49
39107 bp
596.34
836
3
9
15
MUC5B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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