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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
TMEM123 - Transmembrane Protein 123
Alias:
KCT3
PORMIN
PORIMIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个高度糖基化的跨膜蛋白,其细胞外结构域中含有大量苏氨酸和丝氨酸残基,类似于广义上称为黏附素的蛋白质类别。某些细胞类型暴露于抗PORIMIN(诱导膜损伤的肿瘤相关受体)抗体时,该蛋白在细胞表面上交联并诱导一种称为oncosis的细胞死亡类型。Oncosis不同于凋亡,其特点是细胞膜完整性丧失,而无DNA碎片。这个基因产物被提议作为细胞表面受体,调节细胞死亡。[RefSeq,2008年7月提供]
Related ID:
NCBI:114908
ENSEMBL:ENSG00000152558
HGNC:30138
UNIPROT:Q8N131
OMIM:606356
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
114908
1
5
56434 bp
21.53
6
--
4
6
TMEM123 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
Organ
Abundance
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Interactions
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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
Title
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Journal
Year
IF
No Data Found!
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