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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
LITAF - Lipopolysaccharide Induced TNF Factor
Alias:
PIG7
SIMPLE
TP53I7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
脂质多糖是一种强大的单核细胞和巨噬细胞刺激剂,导致肿瘤坏死因子-α(TNF-α)和其他炎症介质的分泌。这个基因编码脂质多糖诱导的TNF-α因子,这是一个DNA结合蛋白,可以通过直接结合TNF-α基因的启动子区域来调节TNF-α的表达。这个基因的转录受到肿瘤抑制因子p53的诱导,并与p53诱导的凋亡途径有关。这个基因的突变导致Charcot-Marie-Tooth疾病1C型(CMT1C),并可能涉及乳腺外Paget病的癌发生。已经在这个基因中发现了多种替代剪接的转录变异体。[由RefSeq,2014年12月提供]
Related ID:
NCBI:9516
ENSEMBL:ENSG00000189067
HGNC:16841
UNIPROT:Q99732
OMIM:603795
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9516
11
4
92596 bp
17.11
255
2
11
20
LITAF Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
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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CAS Number
Status
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Link
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References Literature
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Year
IF
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