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中文人类
LRRC8A - Leucine Rich Repeat Containing 8 VRAC Subunit A
Alias:
AGM5
LRRC8
SWELL1
HsLRRC8A
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这个基因编码一种属于富含亮氨酸重复蛋白家族的蛋白质，这些蛋白质参与多种生物过程，包括细胞粘附、细胞内运输和激素受体相互作用。这个家族成员是一个推测的四穿膜蛋白，在B细胞发育中起作用。这个基因的缺陷导致常染色体显性非布屯类型的无丙种球蛋白血症，这是一种由于B细胞成熟缺陷引起的免疫缺陷病。已经发现了这个基因的多个可变剪接转录本变异，它们编码相同的蛋白质。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LRRC8A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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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
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MGI
Strain of Origin
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References Literature
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