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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
GNRHR - Gonadotropin Releasing Hormone Receptor
Alias:
HH7
GRHR
LRHR
LHRHR
GNRHR1
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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1型促性腺激素释放激素受体。这个受体是七跨膜G蛋白耦合受体(GPCR)家族的成员。它表达在脑垂体促性腺细胞表面以及淋巴细胞、乳腺、卵巢和前列腺上。结合促性腺激素释放激素后,受体与G蛋白结合,激活磷脂酰肌醇-钙第二信使系统。受体的激活最终导致促性腺激素黄体生成素(LH)和卵泡刺激激素(FSH)的释放。这个基因的缺陷是导致促性腺激素不足性腺功能减退(HH)的原因。可变剪接导致多个转录变异体编码不同的异构体。这个基因的5'区域已经确定了超过18个转录起始位点,3'区域已经确定了多个polyA信号。[RefSeq,2008年7月提供]
Related ID:
NCBI:2798
ENSEMBL:ENSG00000109163
HGNC:4421
UNIPROT:P30968
OMIM:138850
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2798
2
3
17271 bp
37.73
170
4
11
19
GNRHR Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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