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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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人类
ACACA - Acetyl-CoA Carboxylase Alpha
Alias:
ACC
ACAC
ACC1
ACCA
Acac1
hACC1
ACACAD
ACCalpha
ACACalpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
乙酰辅酶A羧化酶(ACC)是一种复杂的多功能酶系统。ACC是一种含有生物素的酶,催化乙酰辅酶A的羧基化作用,生成丙二酰辅酶A,这是脂肪酸合成中的限速步骤。ACC有两种形式,α和β,由两种不同的基因编码。ACC-α在脂肪生成组织中高度丰富。该酶在转录和翻译水平上受到长期控制,并通过靶定的丝氨酸残基的磷酸化/脱磷酸化和通过柠檬酸或棕榈酰辅酶A的变构转化受到短期调节。已经发现这个基因有多个可变剪接转录变异体,在5’序列上不同并编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:31
ENSEMBL:ENSG00000278540
HGNC:84
UNIPROT:Q13085
OMIM:200350
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
31
26
56
321845 bp
265.55
174
--
10
29
ACACA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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