Tetratricopeptide repeat domain 21b explained
Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.[1]
Function
This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011].
Further reading
- Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F . Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy . J. Med. Genet. . 48 . 2 . 105–16 . February 2011 . 21068128 . 3913043 . 10.1136/jmg.2010.082552 .
- Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N . TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum . Nat. Genet. . 43 . 3 . 189–96 . March 2011 . 21258341 . 3071301 . 10.1038/ng.756 .
- Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C . A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS . J. Am. Soc. Nephrol. . 25 . 11 . 2435–43 . November 2014 . 24876116 . 4214529 . 10.1681/ASN.2013101126 .
- Liran Carmel. Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E . Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome? . Clin. Genet. . 90 . 6 . 540–544 . December 2016 . 26925547 . 10.1111/cge.12764. 315377 .
- Bullich G, Vargas I, Trujillano D, Mendizábal S, Piñero-Fernández JA, Fraga G, García-Solano J, Ballarín J, Estivill X, Torra R, Ars E . Contribution of the TTC21B gene to glomerular and cystic kidney diseases . Nephrol. Dial. Transplant. . 32 . 1 . 151–156 . January 2017 . 26940125 . 10.1093/ndt/gfv453 . free .
Notes and References
- Web site: Entrez Gene: Tetratricopeptide repeat domain 21B. 2018-10-23.
