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LRRC8A

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Urothelial cells, Prostatic glandular cells, Basal prostatic cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (HaCaT)

Interaction

Hexamer; forms a trimer of dimers (PubMed:30095067, 30127360). Heterohexamer; oligomerizes with other LRRC8 proteins (LRRC8B, LRRC8C, LRRC8D and/or LRRC8E) to form a heterohexamer (PubMed:24782309, 24790029, 26824658, 30095067). Can form homohexamers in vitro, but these have lower conductance than heterohexamers (PubMed:26824658). Detected in a channel complex that contains LRRC8A, LRRC8C and LRRC8E (PubMed:28193731). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable). Interact with GRB2 (By similarity).

Molecular function

Ion channel

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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