DYX1C1

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

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.

Clinical significance[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000256061 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000092192 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b 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[edit]