DYX1C1 Antibody – Rabbit Polyclonal

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]

Function: Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. Ref.6

Subunit structure: Interacts with ESR1 and ESR2. Interacts with STUB1. Ref.6

Subcellular location: Nucleus. Cytoplasm Ref.1 Ref.5 Ref.6.

Tissue specificity: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells. Ref.1

Involvement in disease: Dyslexia 1 (DYX1) [MIM:127700]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving DYX1C1 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).

Sequence similarities: Contains 1 CS domain.Contains 3 TPR repeats.