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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
GHSR - Growth Hormone Secretagogue Receptor
Alias:
GHDP
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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
这个基因编码G蛋白偶联受体家族的一员。编码的蛋白质可能在能量平衡和体重调节中发挥作用。两个已识别的转录变异体在几种组织中表达,并在鱼类和猪中进化保守。一个转录本1a切除一个内含子并编码功能性蛋白质;该蛋白质是Ghrelin配体的受体,并定义了生长激素释放的神经内分泌途径。第二个转录本(1b)保留内含子,不能作为Ghrelin的受体发挥作用;然而,它可能作用于减弱1a异构体的活性。这个基因的突变与常染色体遗传性身材矮小有关。[RefSeq,2010年4月提供]
Related ID:
NCBI:2693
ENSEMBL:ENSG00000121853
HGNC:4267
UNIPROT:Q92847
OMIM:601898
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2693
2
2
5166 bp
41.33
166
1
13
7
GHSR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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Year
IF
No Data Found!
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