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中文人类
ALS2 - Alsin Rho Guanine Nucleotide Exchange Factor ALS2
Alias:
ALSJ
PLSJ
IAHSP
ALS2CR6
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这个基因编码的蛋白质包含一个ATS1/RCC1样结构域，一个RhoGEF结构域和一个液泡蛋白分类9（VPS9）结构域，所有这些都是激活Ras超家族GTPases的鸟苷酸交换因子。该蛋白质作为小GTP酶RAB5的鸟苷酸交换因子发挥作用。蛋白质与早期内体囊泡上的RAB5定位，并作为内体动力学的调节因子。这个基因的突变导致几种形式的青少年横断性脊髓炎和婴儿早期发作的痉挛性瘫痪。已经发现这个基因有不同的转录变异体，编码不同的异构体。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ALS2 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
