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中文人类
CBS - Cystathionine Beta-synthase
Alias:
CBSL
HIP4
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这个基因编码的蛋白质作为同四聚体，催化同型半胱氨酸转化为半胱氨酸，这是转硫途径的第一步。编码的蛋白质通过腺苷酸-甲硫氨酸异构激活，并使用磷酸吡哆醇作为辅因子。这个基因的缺陷可能导致半胱氨酸β-合成酶缺乏症（CBSD），这可能导致高半胱氨酸尿症。这个基因是细胞内硫化氢生产的主要贡献者。已经发现这个基因有多个可变剪接转录变异体。[RefSeq，2016年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CBS 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
