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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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ACSM2A - Acyl-CoA Synthetase Medium Chain Family Member 2A
Alias:
ACSM2
A-923A4.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种特异性的线粒体酰基辅酶A合成酶,用于中链脂肪酸。这些酶通过酰基CoA的转移催化脂肪酸的活化,这是脂肪酸代谢的第一步。这些酶还参与甘氨酸结合途径,用于苯甲酸和布洛芬等异生物质的解毒。这个基因在肾脏中的表达水平可能与肾功能相关。这个基因及其同源基因ACSM2B(基因ID:348158)都在染色体16上存在,可能起源于染色体复制事件。[由RefSeq提供,2017年5月]
Related ID:
NCBI:123876
ENSEMBL:ENSG00000183747
HGNC:32017
UNIPROT:Q08AH3
OMIM:614358
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
123876
9
14
36149 bp
64.22
33
--
4
9
ACSM2A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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