Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains tetratricopeptide repeats (TPR)...
6 KB (775 words) - 01:56, 4 March 2023
early years of life. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290, TMEM67...
15 KB (1,430 words) - 20:09, 4 May 2025
Ontology, the following human proteins are associated with the PCM [1]: BBS4, Bardet-Biedl syndrome 4 protein Lck, Proto-oncogene tyrosine-protein kinase...
3 KB (341 words) - 17:13, 12 February 2023
gene mutations that occur in BBS are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12...
23 KB (2,541 words) - 21:22, 1 April 2025
proteins within the largest and most stable BBSome core complex are BBS1, BBS4, BBS5, BBS8, BBS9, and BBS-interacting protein BBIP1, also known as BBS18...
53 KB (6,700 words) - 22:46, 6 March 2025
identifiers Agyneta silvae Wikidata: Q18612379 Wikispecies: Agyneta silvae CoL: BBS4 GBIF: 7545958 iNaturalist: 752480 Open Tree of Life: 6168661 WSC: urn:lsid:nmbe...
624 bytes (29 words) - 20:11, 9 March 2025
disrupted-in-schizophrenia 1 (DISC1) and Bardet-Biedl syndrome 4 protein (BBS4), which provides a link between aberrant PCM1 and the abnormal cortical development...
17 KB (1,718 words) - 11:41, 15 November 2024
for limb-girdle muscular dystrophy. DCTN1 has been shown to interact with: BBS4, Dystonin, Grb2, and RAB6A. GRCh38: Ensembl release 89: ENSG00000204843 –...
14 KB (1,632 words) - 05:18, 28 March 2024
HGNC:964 O75936 1443 BBS1 HGNC:966 Q8NFJ9 1444 BBS2 HGNC:967 Q9BXC9 1445 BBS4 HGNC:969 Q96RK4 1446 BBS5 HGNC:970 Q8N3I7 1447 BBS7 HGNC:18758 Q8IWZ6 1448...
277 KB (17 words) - 18:34, 6 October 2024
humans is encoded by the TTC8 gene. TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication...
5 KB (634 words) - 12:09, 17 January 2024
calmodulin 1 (CALM1) proteins. Kamiya et al. have shown that PCM1, DISC1 and BBS4 can all disrupt neuronal organisation in the mouse when their expression...
39 KB (4,723 words) - 06:28, 29 March 2024
Human genes encoding proteins containing this motif include: AAG2, ANAPC7 BBS4 CABIN1, CDC16, CDC23, CDC27, CNOT10, CTR9 DNAJC3, DNAJC7, DYX1C1 FAM10A4...
11 KB (1,220 words) - 13:23, 10 September 2024
Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule...
11 KB (1,480 words) - 08:58, 5 February 2025
BBS2 Bardet–Biedl syndrome 3; 209900; ARL6 Bardet–Biedl syndrome 4; 209900; BBS4 Bardet–Biedl syndrome 5; 209900; BBS5 Bardet–Biedl syndrome 6; 209900; MKKS...
234 KB (18,877 words) - 18:07, 24 March 2025