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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
BGLAP - Bone Gamma-carboxyglutamate Protein
Alias:
OC
BGP
OCN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种高度丰富的骨蛋白,由成骨细胞分泌,调节骨重塑和能量代谢。编码的蛋白质含有Gla(γ羧酸谷氨酸)结构域,具有结合钙和羟磷灰石的功能,羟磷灰石是骨的矿物成分。血清骨钙素水平可能与代谢综合症呈负相关。这个基因与相邻的上游基因PMF1(多胺调节因子1)之间存在读穿转录,但编码的蛋白质仅与上游基因产物具有序列一致性。[RefSeq提供,2015年6月]
Related ID:
NCBI:632
ENSEMBL:ENSG00000242252
HGNC:1043
UNIPROT:P02818
OMIM:112260
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
632
1
4
1134 bp
10.96
9
--
7
5
BGLAP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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
Tissue-specific RNA expression
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Cell-specific RNA 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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