LRRC8A

GENE INFORMATION

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Gene name

LRRC8A (HGNC Symbol)

Synonyms

FLJ10337, KIAA1437, LRRC8

Description

leucine rich repeat containing 8 family, member A (HGNC Symbol)

Entrez gene summary

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

9 (Chromosome progress)

Cytoband

q34.11

Chromosome location (bp)

131644391 - 131680318

Ensembl

ENSG00000136802 (version 73.37)

Entrez gene

56262

UniProt

Q8IWT6 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IWT6

Antibodypedia

LRRC8A antibodies
 

PROTEIN VIEW

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LRRC8A-001
 
LRRC8A-002
 
LRRC8A-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LRRC8A-001 ENSP00000361682
ENST00000372600
Q8IWT6
Show all »
Show » Show » 810 94.2 No 4
LRRC8A-002 ENSP00000361680
ENST00000372599
Q8IWT6
Show all »
Show » Show » 810 94.2 No 4
LRRC8A-201 ENSP00000259324
ENST00000259324
Q8IWT6
Show all »
Show » Show » 810 94.2 No 4