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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
PNLIP - Pancreatic Lipase
Alias:
PL
PTL
PNLIPD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码脂酶家族蛋白质的一员。编码的酶由胰腺分泌并在小肠中水解甘油三酯,对于饮食脂肪的高效消化是必需的。抑制编码的酶可能预防小鼠的高脂饮食诱导的肥胖,并导致肥胖的人类患者体重减轻。这个基因的突变导致先天性胰腺脂酶缺乏,这是一种罕见的疾病,以脂肪泻为特征。[RefSeq,2016年7月提供]
Related ID:
NCBI:5406
ENSEMBL:ENSG00000175535
HGNC:9155
UNIPROT:P16233
OMIM:246600
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5406
1
13
21925 bp
51.16
125
1
4
15
PNLIP 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
Detail
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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
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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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