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中文人类
LEP - Leptin
Alias:
OB
OBS
LEPD
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这个基因编码一种蛋白质，由白色脂肪细胞分泌到循环系统中，在能量平衡调节中起主要作用。循环中的瘦素与大脑中的瘦素受体结合，激活下游信号通路，抑制进食并促进能量消耗。这种蛋白质还具有几个内分泌功能，并涉及免疫和炎症反应、造血、血管生成、生殖、骨形成和伤口愈合的调节。这个基因及其调控区域的突变导致人类患者出现严重的肥胖症和伴有性腺功能低下的病理性肥胖。这个基因的突变也与2型糖尿病的发展有关。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LEP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
