人类

HMGCS2 - 3-hydroxy-3-methylglutaryl-CoA Synthase 2

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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于HMG-CoA合酶家族。它是一种线粒体酶,催化酮体生成的第一反应,这是一种在碳水化合物缺乏时期(如禁食)为各种器官提供脂质来源的能量代谢途径。这个基因的突变与HMG-CoA合酶缺乏症有关。已经发现这个基因有不同的剪接转录变异体,它们编码不同的异构体。[RefSeq,2009年10月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2
10
20937 bp
56.63
252
2
11
17

HMGCS2 Genetics information (-)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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

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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