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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
TMEM127 - Transmembrane Protein 127
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有四个预测跨膜结构的跨膜蛋白。该蛋白与早期内质网结构、高尔基体和溶酶体相对应的一组囊泡器官相关,并可能参与这些结构之间的蛋白质运输。这个基因和几个其他基因的突变导致嗜铬细胞瘤。已经发现了编码相同蛋白质的替代剪接转录变异体。[由RefSeq,2022年8月提供]
Related ID:
NCBI:55654
ENSEMBL:ENSG00000135956
HGNC:26038
UNIPROT:O75204
OMIM:613403
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55654
4
4
17484 bp
25.84
792
3
5
9
TMEM127 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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References Literature
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