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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
TAPBPL - TAP Binding Protein Like
Alias:
TAPBPR
TAPBP-R
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Tapasin,或TAPBP(MIM 601962),是变异恒定Ig超家族的一员,将内质网(ER)中的主要组织相容性复合体(MHC)Ⅰ类分子与抗原加工相关转运体(TAP;参见MIM 170260)连接起来。TAPBP基因位于染色体6p21.3上的MHC复合体附近。TAPBPL是Ig超家族的一员,位于染色体12p13.3上,该区域与MHC略有平行。[由OMIM于2008年3月提供]
Related ID:
NCBI:55080
ENSEMBL:ENSG00000139192
HGNC:30683
UNIPROT:Q9BX59
OMIM:607081
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55080
2
7
20358 bp
50.18
105
4
2
8
TAPBPL Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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