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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
AMH - Anti-Mullerian Hormone
Alias:
MIF
MIS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种分泌性的TGF-beta(转化生长因子-β)超家族蛋白质的配体。这个家族的配体结合各种TGF-beta受体,导致SMAD家族转录因子的招募和激活,从而调控基因表达。编码的前原原蛋白经过蛋白水解加工,生成N端和C端的切割产物,它们可以形成同源二聚体,并关联形成具有生物活性的非共价复合物。这个复合物结合抗穆勒氏激素受体2型,导致男性胚胎中穆勒氏导管的退化,否则这些导管会发育成子宫和输卵管。这个蛋白还在勒yd格细胞分化和功能以及成年雌性卵泡发育中发挥作用。这个基因的突变导致穆勒氏导管持续存在综合症。[RefSeq,2016年7月提供]
Related ID:
NCBI:268
ENSEMBL:ENSG00000104899
HGNC:464
UNIPROT:P03971
OMIM:600957
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
268
1
5
2751 bp
59.20
135
2
13
12
AMH Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Score
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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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Type
Name
MGI
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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