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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
BGN - Biglycan
Alias:
PGI
MRLS
DSPG1
PG-S1
SEMDX
SLRR1A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码富含亮氨酸的小蛋白聚糖(SLRP)家族成员。编码的前原蛋白在蛋白水解过程中被加工成成熟蛋白,该成熟蛋白在多个组织的骨生长、肌肉发育和再生以及胶原纤维组装中发挥作用。该蛋白还可能调节炎症和先天免疫。此外,编码的蛋白可能参与人类患者的动脉粥样硬化和主动脉瓣狭窄。这个基因和相关基因decorin被认为是基因重复的结果。[RefSeq, Nov 2015提供]
Related ID:
NCBI:633
ENSEMBL:ENSG00000182492
HGNC:1044
UNIPROT:P21810
OMIM:301870
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
633
2
8
14567 bp
41.65
256
6
7
14
BGN Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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