2e7m

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Template:STRUCTURE 2e7m

Contents 1 Solution structure of the PKD domain (329-428) from human KIAA0319 2 Disease 3 Function 4 About this Structure 5 Reference

Solution structure of the PKD domain (329-428) from human KIAA0319

Disease

[K0319_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]

Function

[K0319_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]

About this Structure

2e7m is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

1. ↑ Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP. The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet. 2006 May 15;15(10):1659-66. Epub 2006 Apr 6. PMID:16600991 doi:10.1093/hmg/ddl089
2. ↑ Peschansky VJ, Burbridge TJ, Volz AJ, Fiondella C, Wissner-Gross Z, Galaburda AM, Lo Turco JJ, Rosen GD. The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat. Cereb Cortex. 2010 Apr;20(4):884-97. doi: 10.1093/cercor/bhp154. Epub 2009 Aug, 13. PMID:19679544 doi:10.1093/cercor/bhp154