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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
CSH1 - Chorionic Somatomammotropin Hormone 1
Alias:
PL
CSA
CS-1
CSMT
GHB3
hCS-1
hCS-A
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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,在生长控制中扮演重要角色。该基因位于染色体17上的生长激素基因座上,同一转录方向上有四个其他相关基因;人们认为这种排列是通过一系列基因复制演化而来的。尽管这五个基因在序列上具有非常高的相似性,但它们在不同组织中选择性表达。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。这个特定的家族成员主要表达在胎盘中,并使用多个转录起始位点。绒毛膜促生长激素激素1和2的相同成熟蛋白质在发育过程中表达上调,尽管1和2的比例在妊娠晚期增加。这个基因的突变导致胎盘催乳素缺乏和Silver-Russell综合症。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1442
ENSEMBL:ENSG00000136488
HGNC:2440
UNIPROT:P0DML2
OMIM:150200
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1442
1
5
1657 bp
25.02
12
--
9
15
CSH1 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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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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