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中文人类
ACADM - Acyl-CoA Dehydrogenase Medium Chain
Alias:
MCAD
ACAD1
MCADH
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这个基因编码中链特异性的(C4到C12直链)酰基辅酶A脱氢酶。这个同源四聚体酶催化线粒体脂肪酸β氧化途径的初始步骤。这个基因的缺陷导致中链酰基辅酶A脱氢酶缺乏症，这是一种以肝功能障碍、禁食低血糖和脑病为特征的疾病，可能导致婴儿死亡。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ACADM 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
