BBS7 Rabbit Polyclonal Antibody, 20ul Sealing Film has been identified in patients

has been identified in patients with mild intellectual disability

liver and spleen

dilated cardiomyopathy (DCM)

The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures

BBS7 Rabbit Polyclonal Antibody, 20ul Sealing Film has been identified in patientsThis 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,