2e7m
From Proteopedia
Solution structure of the PKD domain (329-428) from human KIAA0319
Structural highlights
DiseaseK0319_HUMAN Defects in KIAA0319 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. Note=A lower expression is associated with the risk haplotype.[1] FunctionK0319_HUMAN Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.[2] Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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