Disease relevance of LRRC8A

• In a previous study, we isolated a novel gene, LRRC8 (leucine-rich repeat-containing 8), in a girl with congenital agammaglobulinemia [1].

High impact information on LRRC8A

• These results indicate that LRRC8 is responsible for the B cell deficiency in this patient and is required for B cell development [2].
• A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans [2].
• Protein products derived from the truncated gene are coexpressed on white blood cells with the intact LRRC8 protein from the untranslocated allele [2].
• In the current study, we isolated a novel gene, leucine-rich repeat-containing 8 (LRRC8), at the translocation site on chromosome 9 [2].
• Transplantation experiments with murine bone marrow cells that were forced to express the truncated LRRC8 show that expression of the truncated protein inhibited B cell development [2].

Anatomical context of LRRC8A

• LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins [1].

References