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中文小鼠
Aldh6a1 - aldehyde dehydrogenase family 6, subfamily A1
Alias:
Mmsdh
1110038I05Rik
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这个基因编码醛脱氢酶蛋白家族的成员。编码的酶是一种线粒体甲基马来酸半醛脱氢酶，在缬氨酸和嘧啶代谢途径中发挥作用。这种酶催化马来酸和甲基马来酸半醛的不可逆氧化脱羧作用，生成乙酰-和丙酰-CoA。人类基因中的突变导致甲基马来酸半醛脱氢酶缺乏症，其特点是尿液中有机酸中β-丙氨酸、3-羟基丙酸和3-氨基和3-羟基异丁酸两种异构体的水平升高。交替剪接导致多个转录变异体，编码不同的异构体。[RefSeq，2015年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
Aldh6a1 Genetics information (-)
GRCm39
Sequence Homology
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
References Literature
Title
PMID
Journal
Year
IF
