leucine-rich repeat-containing protein 8A (LRRC8A, KIAA1437, LRRC8, UNQ221/PRO247)

Structure

• contains 17 LRR repeats (leucine-rich repeats)

Compartment

membrane

Expression

• expressed in brain > kidney, ovary, lung, liver, heart, fetal brain, liver
• expressed on T-cells, B-lineage cells

Pathology

• chromosomal translocation t(9;20)(q33.2;q12) involving LRRC8 is a cause of non-Bruton type agammaglobulinemia

More general terms

• transmembrane 4e protein
• leucine-rich repeat-containing protein (LRRC)

Database

• OMIM: https://mirror.omim.org/entry/601495
• OMIM: https://mirror.omim.org/entry/608360
• UniProt: http://www.uniprot.org/uniprot/Q8IWT6.html