BBS7 Rabbit Polyclonal Antibody, 100ul Deep Well Plates Mutations in this gene are

Mutations in this gene are associated with generalized glucocorticoid resistance

whereas 53BP2 induces cell death by binding to Bcl2 and NFkB p65

colon and intestine

Mutations in this gene have been linked with Li-Fraumeni syndrome

Alternatively spliced transcript variants have been found for TECR

BBS7 Rabbit Polyclonal Antibody, 100ul Deep Well Plates Mutations in this gene areThis gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin like BBS proteins (BBS6, BBS10, and BBS12) and CCT TRiC family chaperonins. Mutations in this gene are implicated in Bardet Biedl syndrome,