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Gene Family: BBSome

BBSome: The BBSome is a component of the basal body and is involved in formation of the primary cilium. The BBSome is a complex of seven Bardet-Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, TTC8 (aka BBS8) and BBS9. In addition the BBSome contains the BBIP10 protein. [Source: Wikipedia]

Genes contained within the family: 8

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
BBIP1 BBSome interacting protein 1 NCRNA00081 bA348N5.3, BBIP10, BBS18 10q25.2
BBS1 Bardet-Biedl syndrome 1 FLJ23590 11q13.2
BBS2 Bardet-Biedl syndrome 2 BBS 16q13
BBS4 Bardet-Biedl syndrome 4 15q24.1
BBS5 Bardet-Biedl syndrome 5 DKFZp762I194 2q31.1
BBS7 Bardet-Biedl syndrome 7 FLJ10715, BBS2L1 4q27
TTC8 tetratricopeptide repeat domain 8 RP51, BBS8 14q31.3
BBS9 Bardet-Biedl syndrome 9 B1, PTHB1 7p14.3

Comments

This page lists all of the genes currently known to encode the subunits of the BBSome. All of these genes are also associated with the Bardet-Biedl syndrome (BBS), a ciliopathic human genetic disorder and are shown on the gene family page Bardet-Biedl syndrome associated.

External resources

Publications

17574030,19549489