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中文人类
BMPR1B - Bone Morphogenetic Protein Receptor Type 1B
Alias:
ALK6
AMD3
AMDD
BDA2
ALK-6
BDA1D
CDw293
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这个基因编码一个成骨蛋白(BMP)受体家族的成员，该家族是跨膜丝氨酸/苏氨酸激酶。这个受体的配体是BMPs，它们属于TGF-beta超家族。BMPs参与软骨内骨形成和胚胎发生。这些蛋白质通过形成两种不同类型的丝氨酸(苏氨酸)激酶受体的异源复合物来传递它们的信号：约50-55kD的类型I受体和约70-80kD的类型II受体。类型II受体在无类型I受体存在下结合配体，但它们需要各自的类型I受体进行信号传递，而类型I受体需要各自的类型II受体进行配体结合。这个基因的突变与原发性肺高血压有关。已经发现这个基因的几个转录变异体编码两种不同的异构体。[RefSeq，2012年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BMPR1B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
