Entrez Summary: This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
UniProt Summary: Involved in B-lymphocyte antigen receptor signaling and germinal center formation. {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
Kelch 1
BTB
Kelch 2
BACK
GO Terms
germinal center formation
B cell receptor signaling pathway
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains