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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
BTN3A1 - Butyrophilin Subfamily 3 Member A1
Alias:
BTF5
BT3.1
CD277
BTN3.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
酪酸磷酸肽(BTN)基因是一组主要组织相容性复合体(MHC)相关基因,编码具有2个细胞外免疫球蛋白(Ig)结构域和1个细胞内B30.2(PRYSPRY)结构域的I型膜蛋白。人类BTN基因的三个亚家族位于MHC I类区域:单拷贝的BTN1A1基因(MIM 601610)和经过串联重复的BTN2(例如BTN2A1;MIM 613590)和BTN3(例如BTN3A1)基因,每个基因都有3个拷贝(Smith等人,2010年[PubMed 20208008]概述)。[由OMIM于2010年11月提供]
Related ID:
NCBI:11119
ENSEMBL:ENSG00000026950
HGNC:1138
UNIPROT:O00481
OMIM:613593
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
11119
16
10
12934 bp
57.68
21
--
--
10
BTN3A1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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