DYX1C1

Dyslexia susceptibility 1 candidate gene 1 protein is a protein that in humans is encoded by the DYX1C1 gene.[5][6] This protein contains 420-amino acids with 3 tetratricopeptide repeat (TPR) domains, thought to mediate protein–protein interactions.

DNAAF4
Identifiers
AliasesDNAAF4, CILD25, DYX1, DYXC1, EKN1, RD, DYX1C1, dyslexia susceptibility 1 candidate 1, dynein axonemal assembly factor 4
External IDsOMIM: 608706 MGI: 1914935 HomoloGene: 12173 GeneCards: DNAAF4
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q21.3Start55,410,525 bp[1]
End55,508,234 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

161582

67685

Ensembl

ENSG00000256061

ENSMUSG00000092192

UniProt

Q8WXU2

Q8R368

RefSeq (mRNA)

NM_130810
NM_001033559
NM_001033560

NM_001163725
NM_026314

RefSeq (protein)

NP_001028731
NP_001028732
NP_570722

NP_001157197
NP_080590

Location (UCSC)Chr 15: 55.41 – 55.51 MbChr 9: 72.96 – 72.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

A mutation in the DYX1C1 gene has been associated with deficits in reading ability (dyslexia).[5][7]

References

  1. GRCh38: Ensembl release 89: ENSG00000256061 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000092192 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: DYX1C1 dyslexia susceptibility 1 candidate 1".
  7. 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


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