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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
TNFSF11 - TNF Superfamily Member 11
Alias:
ODF
OPGL
sOdf
CD254
OPTB2
RANKL
TNLG6B
TRANCE
hRANKL2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肿瘤坏死因子(TNF)细胞因子家族的一员,它是骨保护蛋白的配体,并作为破骨细胞分化和激活的关键因子发挥作用。这种蛋白质被证明是树突状细胞生存因子,并涉及调节T细胞依赖的免疫应答。有报道,T细胞激活能诱导这个基因的表达,导致破骨细胞生成的增加和骨丢失。这种蛋白质被证明能通过涉及SRC激酶和肿瘤坏死因子受体相关因子(TRAF)6的信号复合体激活抗凋亡激酶AKT/PKB,这表明这种蛋白质可能在细胞凋亡的调节中发挥作用。在小鼠中相关基因的靶向破坏导致严重的骨脆症和缺乏破骨细胞。缺陷小鼠在妊娠期间表现出T和B淋巴细胞早期分化缺陷,并无法形成小叶-肺泡状乳腺结构。已经发现了两种可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8600
ENSEMBL:ENSG00000120659
HGNC:11926
UNIPROT:O14788
OMIM:602642
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8600
6
5
45278 bp
35.48
191
2
17
10
TNFSF11 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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