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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
XK - X-linked Kx Blood Group Antigen, Kell And VPS13A Binding Protein
Alias:
KX
NA
NAC
X1k
XKR1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座控制Kell血型“前体物质”的合成(Kx)。这个基因的突变与麦科尔德综合征有关,这是一种X连锁的隐性疾病,特点是神经肌肉和造血系统异常。编码的蛋白质具有原核和真核膜运输蛋白质的结构特征。[RefSeq,2008年7月提供]
Related ID:
NCBI:7504
ENSEMBL:ENSG00000047597
HGNC:12811
UNIPROT:P51811
OMIM:314850
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7504
2
3
46340 bp
50.90
55
1
5
9
XK Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
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Journal
Year
IF
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