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中文人类
ALAS2 - 5'-aminolevulinate Synthase 2
Alias:
ASB
ANH1
XLSA
ALASE
XLDPP
XLEPP
ALAS-E
SIDBA1
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这个基因的产物指定了一种红细胞特异性的线粒体定位酶。编码的蛋白质催化血红素生物合成途径中的第一个步骤。这个基因的缺陷导致X连锁吡哆醇响应性铁粒性贫血。已经发现了编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ALAS2 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
