DYX1C1
| Dyslexia susceptibility 1 candidate 1 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | DYX1C1 ; CILD25; DNAAF4; DYX1; DYXC1; EKN1; RD | ||||||||||||
| External IDs | OMIM: 608706 MGI: 1914935 HomoloGene: 12173 GeneCards: DYX1C1 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 161582 | 67685 | |||||||||||
| Ensembl | ENSG00000256061 | ENSMUSG00000092192 | |||||||||||
| UniProt | Q8WXU2 | Q8R368 | |||||||||||
| RefSeq (mRNA) | NM_001033559 | NM_001163725 | |||||||||||
| RefSeq (protein) | NP_001028731 | NP_001157197 | |||||||||||
| Location (UCSC) |
Chr 15: 55.41 – 55.51 Mb |
Chr 9: 72.96 – 72.97 Mb | |||||||||||
| PubMed search | |||||||||||||
Dyslexia susceptibility 1 candidate gene 1 protein is a protein that in humans is encoded by the DYX1C1 gene.[1][2] 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).[1][3]
References
- 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. doi:10.1073/pnas.1833911100. PMC 208796. PMID 12954984.
- ↑ "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. doi:10.1038/mp.2009.120. PMID 19901951.
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. doi:10.1038/mp.2009.120. PMID 19901951.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- 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. doi:10.1002/ajmg.b.30471. PMID 17450541.
- 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. doi:10.1038/sj.mp.4001596. PMID 15477871.
- 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. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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. doi:10.1111/j.1601-183X.2006.00291.x. PMID 17309662.
- 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. doi:10.1038/ng1285. PMID 14702039.
- 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. doi:10.1136/jmg.2004.018341. PMC 1735619. PMID 15520411.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. doi:10.1038/sj.mp.4001543. PMID 15249932.
- 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. doi:10.1038/sj.ejhg.5201272. PMID 15470369.
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