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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
CHKB - Choline Kinase Beta
Alias:
CK
EK
CKB
EKB
CHKL
CHETK
CKEKB
MDCMC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
胆碱激酶(CK)和乙醇胺激酶(EK)催化胆碱/乙醇胺的磷酸化,生成磷酸胆碱/磷酸乙醇胺。这是所有动物细胞中磷脂酰胆碱/磷脂酰乙醇胺生物合成的第一个酶。已经证明,来自哺乳动物来源的高度纯化的CKs及其重组基因产物具有EK活性,表明这两种活性位于同一蛋白质上。CHKL编码的胆碱/乙醇胺激酶样蛋白属于胆碱/乙醇胺激酶家族;然而,其确切功能尚不清楚。从这个位置表达的读透转录子包括来自下游CPT1B位置的外显子。[由RefSeq,2009年6月提供]
Related ID:
NCBI:1120
ENSEMBL:ENSG00000100288
HGNC:1938
UNIPROT:Q9Y259
OMIM:612395
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1120
1
11
3887 bp
45.27
345
2
3
14
CHKB 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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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
PMID
Journal
Year
IF
No Data Found!
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