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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
SOST - Sclerostin
Alias:
CDD
VBCH
DAND6
SOST1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
硬骨蛋白是一种分泌性糖蛋白,具有C-末端半胱氨酸结样(CTCK)结构域,并与神经母细胞瘤中差异筛选选择的基因异常(DAN)家族骨形态发生蛋白(BMP)拮抗剂具有序列相似性。该基因的失功能突变与常染色体隐性紊乱硬骨病有关,导致骨生长过度。该基因下游的缺失导致sclerostin表达减少,与称为van Buchem病的较轻形式的疾病相关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:50964
ENSEMBL:ENSG00000167941
HGNC:13771
UNIPROT:Q9BQB4
OMIM:605740
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
50964
1
2
5054 bp
24.03
78
5
12
13
SOST Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
No data available
References Literature
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No Data Found!
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