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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
GH2 - Growth Hormone 2
Alias:
GHL
GHV
GH-V
GHB2
hGH-V
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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
这个基因编码的蛋白质是生长激素/催乳素家族激素的一员,这些激素在生长控制中起着重要作用。这个基因与其他四个相关基因一起位于染色体17的生长激素位点,它们以相同的转录方向穿插排列;这种排列被认为是通过一系列基因重复进化而来的。这五个基因在序列上具有非常高的相似性。可变剪接产生了五种生长激素的额外异构体,导致进一步的多样性和特殊化的潜力。与它的垂体对应物生长激素1一样,这个特定成员的主要异构体表现出相似的生肌活性,而泌乳活性降低。这个基因的突变导致胎盘生长激素/乳生成素缺乏。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2689
ENSEMBL:ENSG00000136487
HGNC:4262
UNIPROT:P01242
OMIM:139240
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2689
4
5
1730 bp
25.00
15
--
9
14
GH2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Type
Name
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Status
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Link
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References Literature
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