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中文人类
MCCC2 - Methylcrotonyl-CoA Carboxylase Subunit 2
Alias:
MCCB
MCCCbeta
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这个基因编码3-甲基巴豆酰辅酶A羧化酶的小亚基。这个酶作为异源二聚体，催化3-甲基巴豆酰辅酶A羧化为3-甲基戊二酰辅酶A。这个基因的突变与3-甲基巴豆酰甘氨酸尿症有关，这是一种常染色体隐性遗传的亮氨酸代谢障碍。可变剪接导致多个转录变异体，编码不同的异构体。[RefSeq提供，2018年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MCCC2 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
