Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. This gene encodes a protein of unknown function. Mutations in this...
7 KB (687 words) - 04:33, 30 January 2023
patients after their early years of life. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B...
15 KB (1,430 words) - 20:09, 4 May 2025
condition. Some of the gene mutations that occur in BBS are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32...
23 KB (2,541 words) - 21:22, 1 April 2025
proteins (BBS1, BBS2, BBS4, BSS5, BBS7, BBS8, and BBS9). They also discovered the relationship between the subunits of interactions of BBS1/BBS2/BBS7 with β-propeller...
53 KB (6,700 words) - 22:46, 6 March 2025
HGNC:19855 Q8ND07 1442 BBOX1 HGNC:964 O75936 1443 BBS1 HGNC:966 Q8NFJ9 1444 BBS2 HGNC:967 Q9BXC9 1445 BBS4 HGNC:969 Q96RK4 1446 BBS5 HGNC:970 Q8N3I7 1447...
277 KB (17 words) - 18:34, 6 October 2024
Agyneta serratula Wikidata: Q19595828 Wikispecies: Agyneta serratula CoL: BBS2 GBIF: 8154509 iNaturalist: 807968 Open Tree of Life: 3564545 WSC: urn:lsid:nmbe...
634 bytes (29 words) - 04:55, 14 November 2024
coiled coil interaction has been observed to drive the oligomerization of the BBS2 and BBS7 subunits of the BBSome. Because coiled-coils generally interact...
34 KB (3,933 words) - 21:26, 18 April 2025
Andorf, Jeaneen L.; Mykytyn, Kirk; Swiderski, Ruth E. (23 November 2004). "Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy...
28 KB (2,737 words) - 23:38, 26 January 2025
Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am J Hum Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324...
6 KB (784 words) - 13:28, 18 October 2022
likely requires the presence of three mutant alleles, including those in BBS2, BBS6, and possibly in other loci and they identified a digenic mechanism...
35 KB (4,334 words) - 22:15, 5 December 2023
JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with...
7 KB (811 words) - 19:18, 13 January 2024
Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240. PMID 12567324...
4 KB (546 words) - 21:55, 18 August 2023
Bardet–Biedl syndrome 15; 209900; C2orf86 Bardet–Biedl syndrome 2; 209900; BBS2 Bardet–Biedl syndrome 3; 209900; ARL6 Bardet–Biedl syndrome 4; 209900; BBS4...
234 KB (18,877 words) - 18:07, 24 March 2025
extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism". Eur. J. Hum. Genet. 14 (11):...
6 KB (796 words) - 08:06, 23 November 2021