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中文人类
HMGCL - 3-hydroxy-3-methylglutaryl-CoA Lyase
Alias:
HL
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这个基因编码的蛋白质属于HMG-CoA裂解酶家族。它是一种线粒体酶，催化亮氨酸降解的最后一步，并在酮体形成中发挥关键作用。这个基因的突变与HMG-CoA裂解酶缺乏有关。这个基因发现了编码不同异构体的可变剪接转录变体。[由RefSeq提供，2009年10月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HMGCL 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
