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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
LPL - Lipoprotein Lipase
Alias:
LIPD
HDLCQ11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
LPL编码脂蛋白脂肪酶,该酶在心、肌和脂肪组织中表达。LPL作为同型二聚体发挥作用,具有甘油三酯水解酶和受体介导的脂蛋白摄取的配体/桥接因子的双重功能。LPL缺陷的严重突变导致I型高脂蛋白血症,而LPL中较不严重的突变与脂蛋白代谢的许多疾病有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4023
ENSEMBL:ENSG00000175445
HGNC:6677
UNIPROT:P06858
OMIM:609708
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4023
1
10
28007 bp
53.16
602
4
7
85
LPL Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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