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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
GLYCTK - Glycerate Kinase
Alias:
HBEBP2
HBEBP4
HBeAgBP4A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座编码甘油酸激酶2型家族的一员。编码的酶催化(R)-甘油酸的磷酸化,可能涉及丝氨酸降解和果糖代谢。编码酶活性降低可能与疾病D-甘油酸尿症有关。已经描述了可变剪接的转录变异体。[由RefSeq,2009年1月提供]
Related ID:
NCBI:132158
ENSEMBL:ENSG00000168237
HGNC:24247
UNIPROT:Q8IVS8
OMIM:610516
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
132158
8
5
7430 bp
55.25
153
1
3
6
GLYCTK 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
Organ
Abundance
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Interactions
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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
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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