DYX1C1
| DNAAF4 | |||||||||||||||||
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| Identifiers | |||||||||||||||||
| Aliases | DNAAF4, CILD25, DYX1, DYXC1, EKN1, RD, DYX1C1, dyslexia susceptibility 1 candidate 1, dynein axonemal assembly factor 4 | ||||||||||||||||
| External IDs | MGI: 1914935 HomoloGene: 12173 GeneCards: DNAAF4 | ||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
| Ensembl | |||||||||||||||||
| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| Location (UCSC) | Chr 15: 55.41 – 55.51 Mb | Chr 9: 72.96 – 72.97 Mb | |||||||||||||||
| PubMed search | [1] | [2] | |||||||||||||||
| Wikidata | |||||||||||||||||
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Dyslexia susceptibility 1 candidate gene 1 protein is a protein that in humans is encoded by the DYX1C1 gene.[3][4] This protein contains 420-amino acids with 3 tetratricopeptide repeat (TPR) domains, thought to mediate protein–protein interactions.
Clinical significance
A mutation in the DYX1C1 gene has been associated with deficits in reading ability (dyslexia).[3][5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J (Oct 2003). "A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain". Proc Natl Acad Sci U S A. 100 (20): 11553–8. PMC 208796
. PMID 12954984. doi:10.1073/pnas.1833911100. - ↑ "Entrez Gene: DYX1C1 dyslexia susceptibility 1 candidate 1".
- ↑ Bates TC, Lind PA, Luciano M, Montgomery GW, Martin NG, Wright MJ (November 2009). "Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation". Mol. Psychiatry. 15 (12): 1190–6. PMID 19901951. doi:10.1038/mp.2009.120.
Further reading
- Bates TC, Lind PA, Luciano M, Montgomery GW, Martin NG, Wright MJ (November 2009). "Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation". Mol. Psychiatry. 15 (12): 1190–6. PMID 19901951. doi:10.1038/mp.2009.120.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548. doi:10.1101/gr.6.9.791.
- Brkanac Z, Chapman NH, Matsushita MM, et al. (2007). "Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (4): 556–60. PMID 17450541. doi:10.1002/ajmg.b.30471.
- Cope NA, Hill G, van den Bree M, et al. (2005). "No support for association between dyslexia susceptibility 1 candidate 1 and developmental dyslexia.". Mol. Psychiatry. 10 (3): 237–8. PMID 15477871. doi:10.1038/sj.mp.4001596.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Marino C, Citterio A, Giorda R, et al. (2007). "Association of short-term memory with a variant within DYX1C1 in developmental dyslexia.". Genes, Brain and Behavior. 6 (7): 640–6. PMID 17309662. doi:10.1111/j.1601-183X.2006.00291.x.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.
- Scerri TS, Fisher SE, Francks C, et al. (2005). "Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK.". J. Med. Genet. 41 (11): 853–7. PMC 1735619 . PMID 15520411. doi:10.1136/jmg.2004.018341.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Wigg KG, Couto JM, Feng Y, et al. (2005). "Support for EKN1 as the susceptibility locus for dyslexia on 15q21.". Mol. Psychiatry. 9 (12): 1111–21. PMID 15249932. doi:10.1038/sj.mp.4001543.
- Ylisaukko-Oja T, Peyrard-Janvid M, Lindgren CM, et al. (2005). "Family-based association study of DYX1C1 variants in autism.". Eur. J. Hum. Genet. 13 (1): 127–30. PMID 15470369. doi:10.1038/sj.ejhg.5201272.
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