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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
ACLY - ATP Citrate Lyase
Alias:
ACL
ATPCL
CLATP
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
ATP柠檬酸裂解酶是许多组织中负责细胞质乙酰辅酶A合成的主要酶。该酶是四聚体(相对分子质量约为440,000),由明显相同的亚基组成。它催化柠檬酸和辅酶A形成乙酰辅酶A和草酰乙酸,同时伴随ATP水解为ADP和磷酸根。产物乙酰辅酶A用于几个重要的生物合成途径,包括脂肪生成和胆固醇生成。在神经组织中,ATP柠檬酸裂解酶可能涉及乙酰胆碱的生物合成。已经发现了这个基因的多个转录变异体,编码不同的异构体。[RefSeq提供,2014年12月]
Related ID:
NCBI:47
ENSEMBL:ENSG00000131473
HGNC:115
UNIPROT:P53396
OMIM:108728
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
47
5
29
63629 bp
120.84
50
--
9
28
ACLY 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
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Abundance
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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