LRRC8A Antibody – Rabbit Polyclonal

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]

LRRC8A: Involved in B-cell development. Required for the pro-B cell to pre-B cell transition. Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5). It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 9q34.11

Cellular Component: cell surface; membrane; plasma membrane

Molecular Function: anion channel activity; protein binding; volume-sensitive anion channel activity

Biological Process: anion transport; cell volume homeostasis; pre-B cell differentiation; response to osmotic stress

Disease: Agammaglobulinemia 5, Autosomal Dominant