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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
ERVH48-1 - Endogenous Retrovirus Group 48 Member 1, Envelope
Alias:
SUPYN
C21orf105
NDUFV3-AS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
内源逆转录病毒家族在正常胎盘组织中高表达,提示内源逆转录病毒在生殖功能中具有重要作用。该基因是具有胎盘特异性的内源逆转录病毒原病毒的一部分。编码的蛋白质具有逆转录病毒包膜蛋白的特征,但被截断并缺乏跨膜结构域。该蛋白质通过竞争性与syncytin-1结合细胞受体来抑制细胞融合。[RefSeq,2015年5月提供]
Related ID:
NCBI:90625
ENSEMBL:ENSG00000233056
HGNC:17216
UNIPROT:M5A8F1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
90625
1
2
8828 bp
18.13
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--
--
1
ERVH48-1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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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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References Literature
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