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中文人类
HLCS - Holocarboxylase Synthetase
Alias:
HCS
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这个基因编码一种酶，催化生物素与羧酸酶和组蛋白结合。该蛋白在糖异生、脂肪酸合成和支链氨基酸分解代谢中扮演重要角色。这个基因的缺陷是导致全羧酸合成酶缺乏症的原因。已经发现了多个可变剪接的变异体，编码相同的蛋白质。[RefSeq,2011年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HLCS 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
