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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
OSTM1 - Osteoclastogenesis Associated Transmembrane Protein 1
Alias:
GL
GIPN
OPTB5
HSPC019
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个可能涉及通过泛素依赖的蛋白酶体途径降解G蛋白的蛋白质。编码的蛋白质通过N端富含亮氨酸的区域与G蛋白信号调节器(RGS)家族的A亚家族成员结合。该蛋白质还具有一个中央的环指样结构和E3泛素连接酶活性。这个蛋白质在从果蝇到人类的进化过程中高度保守。这个基因的缺陷可能导致常染色体隐性遗传的婴儿恶性骨贫纤病症。[RefSeq,2008年7月提供]
Related ID:
NCBI:28962
ENSEMBL:ENSG00000081087
HGNC:21652
UNIPROT:Q86WC4
OMIM:607649
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
28962
3
6
33333 bp
37.26
244
2
6
17
OSTM1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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