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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
TNFRSF11A - TNF Receptor Superfamily Member 11a
Alias:
FEO
OFE
ODFR
OSTS
PDB2
RANK
CD265
OPTB7
TRANCER
LOH18CR1
TRANCE-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
这个基因编码的蛋白质是TNF受体超家族的一员。这个受体可以与各种TRAF家族蛋白质相互作用,通过这种方式这个受体诱导NF-kappa B和MAPK8/JNK的激活。这个受体及其配体是T细胞和树突状细胞之间相互作用的重要调节物。这个受体也是破骨细胞和淋巴结发育的基本中介物。这个位置的突变与家族性扩张性骨溶解、常染色体隐性骨病和骨帕尔特病有关。这个位置的可变剪接转录变异已经描述过。[由RefSeq,2012年8月提供]
Related ID:
NCBI:8792
ENSEMBL:ENSG00000141655
HGNC:11908
UNIPROT:Q9Y6Q6
OMIM:603499
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8792
10
10
65979 bp
66.03
480
7
13
10
TNFRSF11A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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