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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
CPTP - Ceramide-1-phosphate Transfer Protein
Alias:
GLTPD1
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
使鞘氨醇-1-磷酸结合活性和鞘氨醇-1-磷酸转移活性得以实现。参与多个过程,包括鞘氨醇-1-磷酸运输;负调控NLRP3炎症体复合物组装;以及负调控白介素-1β的产生。位于胞质中。[由基因资源联盟提供,2022年4月]
Related ID:
NCBI:80772
ENSEMBL:ENSG00000224051
HGNC:28116
UNIPROT:Q5TA50
OMIM:615467
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80772
3
3
4095 bp
24.36
18
--
2
6
CPTP 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
Regulation
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Residues
Reference
Score
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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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