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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
LIFR - LIF Receptor Subunit Alpha
Alias:
SWS
SJS2
STWS
CD118
LIF-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
这个基因编码一个属于I型细胞因子受体家族的蛋白质。这个蛋白质与高亲和力转换器亚基gp130结合,形成一个受体复合物,调节成体胚胎中细胞分化、增殖和生存的多功能细胞因子白血病抑制因子的作用。这个基因的突变导致Schwartz-Jampel综合征2型,这是一种属于骨弯曲异常疾病的疾病。涉及这个基因启动子的易位t(5;8)(p13;q12)与多形性腺瘤基因1相关,与唾液腺多形性腺瘤有关,这是一种唾液腺中常见的良性上皮肿瘤类型。已经发现这个基因编码两种不同剪接变体的多种可变形式。[RefSeq,2018年6月提供]
Related ID:
NCBI:3977
ENSEMBL:ENSG00000113594
HGNC:6597
UNIPROT:P42702
OMIM:151443
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3977
7
20
133736 bp
123.74
900
3
9
6
LIFR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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