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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
IGLL1 - Immunoglobulin Lambda Like Polypeptide 1
Alias:
IGO
14.1
AGM2
IGL1
IGL5
IGLL
IGVPB
CD179b
VPREB2
IGLJ14.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
前B细胞受体存在于proB和preB细胞的表面,参与细胞增殖、从proB细胞向preB细胞阶段的分化、Ig重链基因座的等位基因排除以及Ig轻链基因重排的信号传导。前B细胞受体由与异源二聚体替代轻链结合的膜结合Ig mu重链组成。该基因编码替代轻链亚基之一,是免疫球蛋白基因超家族的成员。该基因不经历重排。该基因的突变可能导致B细胞缺陷和无丙种球蛋白症,这是一种少或无γ球蛋白或抗体的常染色体隐性疾病。已发现该基因有两个编码不同异构体的转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:3543
ENSEMBL:ENSG00000128322
HGNC:5870
UNIPROT:P15814
OMIM:146770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3543
3
3
7166 bp
22.96
186
3
4
8
IGLL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Name
CAS Number
Status
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Link
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References Literature
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