Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene. TTC8 is associated with gamma-tubulin...
5 KB (634 words) - 12:09, 17 January 2024
Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290, TMEM67, MKS1, MKKS chaperone:...
15 KB (1,432 words) - 05:31, 17 June 2024
CNGB1 Retinitis pigmentosa-45 613194 BEST1 Retinitis pigmentosa-50 613464 TTC8 Retinitis pigmentosa 51 613428 C2orf71 Retinitis pigmentosa 54 613575 ARL6...
63 KB (6,450 words) - 14:40, 14 July 2024
FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRX dominant or recessive 1:4,000 Rett...
42 KB (969 words) - 16:02, 3 April 2024
are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14)...
18 KB (2,184 words) - 17:44, 17 April 2024
208500 Bardet–Biedl syndrome 209900 BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12 Ellis–van Creveld syndrome 225500 EVC, EVC2 Joubert...
35 KB (2,499 words) - 18:40, 12 July 2024
Q86TZ1 17575 TTC7A HGNC:19750 Q9ULT0 17576 TTC7B HGNC:19858 Q86TV6 17577 TTC8 HGNC:20087 Q8TAM2 17578 TTC9 HGNC:20267 Q92623 17579 TTC9B HGNC:26395 Q8N6N2...
242 KB (17 words) - 23:17, 27 April 2024
TMTC3, TMTC4, TOMM34, TOMM70A TTC1, TTC3, TTC4, TTC5, TTC6, TTC7A, TTC7B, TTC8, TTC9C, TTC12, TTC13, TTC14, TTC15, TTC16, TTC17, TTC18, TTC21A, TTC21B,...
11 KB (1,220 words) - 15:13, 30 May 2024
MKKS Bardet–Biedl syndrome 7; 209900; BBS7 Bardet–Biedl syndrome 8; 209900; TTC8 Bardet–Biedl syndrome 9; 209900; PTHB1 Bare lymphocyte syndrome, type I;...
234 KB (18,877 words) - 15:43, 9 May 2024
PMC 139241. PMID 12477932. Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl...
4 KB (546 words) - 21:55, 18 August 2023