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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
LEPR - Leptin Receptor
Alias:
OBR
OB-R
CD295
LEP-R
LEPRD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于已知的通过激活胞质STAT蛋白质来刺激基因转录的细胞因子受体gp130家族。这种蛋白质是瘦素(一种调节体重的新陈代谢激素)的受体,参与脂肪代谢的调节,以及正常淋巴细胞生成所需的新造血途径。这个基因的突变与肥胖和垂体功能紊乱有关。已描述了这个基因的不同剪接转录变异体,它们编码不同的异构体。值得注意的是,这个基因和LEPROT基因(GeneID:54741)共享相同的启动子和前两个外显子,但是编码不同的蛋白质(PMID:9207021)。[由RefSeq,2010年11月提供]
Related ID:
NCBI:3953
ENSEMBL:ENSG00000116678
HGNC:6554
UNIPROT:P48357
OMIM:601007
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3953
6
20
220908 bp
132.49
254
1
53
26
LEPR 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
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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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