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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
AMHR2 - Anti-Mullerian Hormone Receptor Type 2
Alias:
AMHR
MRII
MISR2
MISRII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码抗穆勒氏管激素(AMH)受体,AMH除了睾酮外,导致男性性别分化。AMH和睾酮在睾丸中由不同细胞产生,具有不同的作用。睾酮促进男性生殖器官的发育,而AMH与其编码受体的结合可防止穆勒氏管发育成子宫和输卵管。此基因的突变与持续性穆勒氏管综合症II型有关。已经发现了编码不同异型的可选剪接转录本变异体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:269
ENSEMBL:ENSG00000135409
HGNC:465
UNIPROT:Q16671
OMIM:600956
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
269
17
11
7818 bp
62.75
86
3
7
9
AMHR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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