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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
BDH1 - 3-hydroxybutyrate Dehydrogenase 1
Alias:
BDH
SDR9C1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码短链脱氢酶/还原酶基因家族的一员。编码的蛋白质形成线粒体膜上的需要脂质的同源四聚酶,并具有对磷脂酰胆碱的最佳酶活性需求。该蛋白质催化乙酰乙酸和(R)-3-羟基丁酸之间的互变,这是脂肪酸分解代谢过程中产生的两种主要酮体。已经描述了编码相同蛋白质的替代剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:622
ENSEMBL:ENSG00000161267
HGNC:1027
UNIPROT:Q02338
OMIM:603063
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
622
10
8
63561 bp
38.16
22
--
8
4
BDH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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