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Gene Family: Bardet-Biedl syndrome associated (BBS)

Bardet-Biedl syndrome: The Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases. Historically, mental retardation has been considered a principal symptom but is now not regarded as such. [Source: Wikipedia]

Genes contained within the family: 21

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
BBS1 Bardet-Biedl syndrome 1 FLJ23590 11q13.2
BBS2 Bardet-Biedl syndrome 2 BBS 16q13
ARL6 ADP ribosylation factor like GTPase 6 BBS3 RP55 3q11.2
BBS4 Bardet-Biedl syndrome 4 15q24.1
BBS5 Bardet-Biedl syndrome 5 DKFZp762I194 2q31.1
MKKS McKusick-Kaufman syndrome BBS6 20p12.2
BBS7 Bardet-Biedl syndrome 7 FLJ10715, BBS2L1 4q27
TTC8 tetratricopeptide repeat domain 8 BBS8, RP51 14q31.3
BBS9 Bardet-Biedl syndrome 9 B1, PTHB1 7p14.3
BBS10 Bardet-Biedl syndrome 10 C12orf58 FLJ23560 12q21.2
TRIM32 tripartite motif containing 32 LGMD2H HT2A, BBS11, TATIP 9q33.1
BBS12 Bardet-Biedl syndrome 12 C4orf24 FLJ35630, FLJ41559 4q27
MKS1 Meckel syndrome, type 1 MKS BBS13, POC12, FLJ20345 17q22
CEP290 centrosomal protein 290 CT87, MKS4, rd16, NPHP6, FLJ13615, KIAA0373, JBTS5, 3H11Ag, BBS14, SLSN6, LCA10, POC3 12q21.32
WDPCP WD repeat containing planar cell polarity effector C2orf86 hFrtz, fritz, BBS15 2p15
SDCCAG8 serologically defined colon cancer antigen 8 NY-CO-8, BBS16, SLSN7, CCCAP, NPHP10 1q43-q44
LZTFL1 leucine zipper transcription factor like 1 BBS17 3p21.31
BBIP1 BBSome interacting protein 1 NCRNA00081 BBIP10, bA348N5.3, BBS18 10q25.2
IFT27 intraflagellar transport 27 RABL4 BBS19, RAYL 22q12.3
IFT172 intraflagellar transport 172 SLB, BBS20, osm-1, NPHP17, wim 2p23.3
C8orf37 chromosome 8 open reading frame 37 BBS21, CORD16, FLJ30600, RP64 8q22.1

Comments

This page lists all of the genes currently known to be causative for Bardet-Biedl syndrome. A subset of these genes encode the subunits of the BBSome (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9, and BBIP1), a multisubunit complex involved in ciliary trafficking and membrane biogenesis. Three further BBS genes (BBS6, BBS10 and BBS12) are homologous to type II chaperonins and together with CCT proteins and BBS7 form the BBS-chaperonin complex which is required for BBSome assembly.