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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
BMPR1A - Bone Morphogenetic Protein Receptor Type 1A
Alias:
ALK3
SKR5
ALK-3
CD292
ACVRLK3
BMPR-1A
10q23del
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
骨形态发生蛋白(BMP)受体是一类跨膜丝氨酸/苏氨酸激酶家族,包括I型受体BMPR1A和BMPR1B以及II型受体BMPR2。这些受体也与激活素受体ACVR1和ACVR2有密切关系。这些受体的配体是TGF-beta超家族的成员。TGF-betas和activins通过与两种不同类型的丝氨酸(苏氨酸)激酶受体形成异源复合物来传递它们的信号:约50-55kD的I型受体和约70-80kD的II型受体。II型受体在无I型受体存在下结合配体,但它们需要各自的I型受体进行信号传递,而I型受体需要各自的II型受体进行配体结合。[由RefSeq,2008年7月提供]
Related ID:
NCBI:657
ENSEMBL:ENSG00000107779
HGNC:1076
UNIPROT:P36894
OMIM:601299
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
657
33
13
177082 bp
60.20
2042
6
7
22
BMPR1A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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