ab172730 - Rabbit monoclonal IgG, is suitable for use as an isotype control with this antibody.
May be involved in neuronal migration during development of the cerebral neocortex.
Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus.
Involvement in disease
Defects in DCDC2 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability.
Tammimies K et al. Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs. FASEB J30:3578-3587 (2016).
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Schueler M et al. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet96:81-92 (2015).
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