Description
Product Characteristics:
The gene encoding DYX1C1 maps in the 15q21 region, which is disrupted by a translocation t(2,15)(q11,q21) and segregates with dyslexia. Two sequence changes in DYX1C1, including one involving the translation initiation sequence and an Elk-1 transcription factor binding site (-3G --> A) and a codon (1249G --> T), introduce a premature stop codon and truncate the protein by 4 amino acids. DYX1C1 encodes a nuclear tetratricopeptide repeat domain protein that is dynamically regulated in brain. In human brain, DYX1C1 protein localizes to a fraction of cortical neurons and white matter glial cells. It is also expressed in lung, kidney and testis.
Subcellular location: Cytoplasm, Nucleus
Synonyms: Dyslexia susceptibility 1 candidate 1, Dyslexia susceptibility 1 candidate gene 1 protein, DYX1, DYX1C1, DYXC1, DYXC1_HUMAN, EKN1, FLJ37882, MGC70618, RD.
Target Information: This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]