Tetratricopeptide repeat domain 21b
Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.[5]
| TTC21B | |||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||
| Aliases | TTC21B, ATD4, IFT139, JBTS11, NPHP12, SRTD4, THM1, Nbla10696, IFT139B, tetratricopeptide repeat domain 21B, FAP60, FLA17 | ||||||||||||||||||||||||
| External IDs | OMIM: 612014 MGI: 1920918 HomoloGene: 57006 GeneCards: TTC21B | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 2: 165.86 – 165.95 Mb | Chr 2: 66.18 – 66.26 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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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].
References
- GRCh38: Ensembl release 89: ENSG00000123607 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000034848 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Tetratricopeptide repeat domain 21B". Retrieved 2018-10-23.
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 (February 2011). "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. doi:10.1136/jmg.2010.082552. PMC 3913043. PMID 21068128.
- 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 (March 2011). "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum". Nat. Genet. 43 (3): 189–96. doi:10.1038/ng.756. PMC 3071301. PMID 21258341.
- 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 (November 2014). "A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS". J. Am. Soc. Nephrol. 25 (11): 2435–43. doi:10.1681/ASN.2013101126. PMC 4214529. PMID 24876116.
- 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 (December 2016). "Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?". Clin. Genet. 90 (6): 540–544. doi:10.1111/cge.12764. PMID 26925547. S2CID 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 (January 2017). "Contribution of the TTC21B gene to glomerular and cystic kidney diseases". Nephrol. Dial. Transplant. 32 (1): 151–156. doi:10.1093/ndt/gfv453. PMID 26940125.
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