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中文人类
BCKDHB - Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta
Alias:
E1B
BCKDE1B
BCKDH E1-beta
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这个基因编码分支链酮酸脱氢酶的E1β亚基，这是一个与线粒体内膜相关的多酶复合物。这个酶复合物在分支链氨基酸的分解代谢中发挥作用。这个基因的突变与枫糖浆尿病（MSUD）1B型有关，除了精神障碍和生理发育迟缓以及喂养问题外，该病还表现为尿液中具有枫糖浆气味。该位点的替代剪接导致多个转录变异体。[RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BCKDHB 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
