Human fetal liver, Jurkat and A549 cell lysates; Human fetal kidney tissue.
Lyophilised:Reconstitute with 200ul distilled sterile water. Please note that if you receive this product in liquid form it has already been reconstituted as described and no further reconstitution is necessary.
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid repeated freeze / thaw cycles.
Involved in B-cell development. Required for the pro-B cell to pre-B cell transition.
Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.
Involvement in disease
Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5) [MIM:613506]. 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. Note=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.