XB-FEAT-1012023

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lrrc8a

This is the community wiki page for the gene lrrc8a please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

08/07/2017

Human name has changed for Entrez Gene: 56262. From leucine rich repeat containing 8 family member A to leucine rich repeat containing 8 VRAC subunit A

summary from NCBI

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]