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中文人类
LRBA - LPS Responsive Beige-like Anchor Protein
Alias:
BGL
LBA
CDC4L
CVID8
LAB300
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这个基因编码的蛋白质是WDL-BEACH-WD（WBW）基因家族的一员。其在B细胞和巨噬细胞中受到细菌脂多糖（LPS）的诱导表达。编码的蛋白质与蛋白激酶A结合，可能参与引导细胞内囊泡到激活的受体复合物，有助于免疫效应分子的分泌和/或膜沉积。这个基因的缺陷与常见可变免疫缺陷-8和自身免疫性疾病有关。已经在这个基因中发现了两个编码不同异型的转录变异体。[由RefSeq，2012年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LRBA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
