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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
GH1 - Growth Hormone 1
Alias:
GH
GHN
GH-N
GHB5
IGHD2
hGH-N
IGHD1A
IGHD1B
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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复制演化而来的。这五个基因在序列上具有非常高的相似性。选择性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。这个特定的家族成员在垂体中表达,但在胎盘组织中不表达,而生长激素位点中的其他四个基因则是这样。该基因的突变或缺失导致生长激素缺乏和生长迟缓。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2688
ENSEMBL:ENSG00000259384
HGNC:4261
UNIPROT:P01241
OMIM:139250
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2688
3
5
1637 bp
24.85
131
4
9
38
GH1 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
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
Title
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Journal
Year
IF
No Data Found!
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