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中文人类
AASS - Aminoadipate-semialdehyde Synthase
Alias:
LKRSDH
LORSDH
LKR/SDH
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这个基因编码一种双功能酶，可以催化哺乳动物赖氨酸降解途径中的前两个步骤。该酶的N端和C端部分分别含有赖氨酸-酮戊二酸还原酶和琥珀酸盐脱氢酶活性，从而将赖氨酸转化为α-氨基己二酸半醛。这个基因的突变与家族性高赖氨酸血症有关。[RefSeq,2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AASS 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
