2024年12月25日 · KIAA0319 (KIAA0319) is a Protein Coding gene. Diseases associated with KIAA0319 include Dyslexia 2 and Dyslexia. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is KIAA0319L.

2024年12月25日 · KIAA0319L (KIAA0319 Like) is a Protein Coding gene. Diseases associated with KIAA0319L include Limited Scleroderma and Dyslexia. An important paralog of this gene is KIAA0319.

Over-expression of C-terminally myc-tagged KIAA0319 protein in transiently transfected 293T cells, showing plasma membrane localization. Detection with monoclonal anti- myc 9E10. The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration .

2022年1月14日 · We observed in the KIAA0319 knockout increased cilia length and accelerated cell migration. Using Elastic Resonator Interference Stress Microscopy (ERISM), we detected an increase in cellular...

The Kiaa0319 plays a role in neuronal migration during embryonic development, and that early interference with this gene results in an array of behavioral deficits including impairments in rapid auditory processing and simple spatial learning.

该基因编码一种跨膜蛋白，该蛋白包含一个具有多个多囊肾病 (PKD) 结构域的大细胞外结构域。 编码的蛋白质可能通过调节神经元迁移和细胞粘附在大脑皮层的发育中发挥作用。 该基因中的单核苷酸多态性与阅读障碍有关。 已经观察到该基因编码多种亚型的可变剪接转录物变体。 [RefSeq 提供，2011 年 11 月] This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains.

2017年3月1日 · KIAA0319 is a transmembrane protein associated with dyslexia with a presumed role in neuronal migration. Here we show that KIAA0319 expression is not restricted to the brain but also occurs in sensory and spinal cord neurons, increasing from early postnatal stages to adulthood and being downregulate …

KIAA0319 regulates the transition of neuroepithelial cells into neuronal progenitor cells. To determine how KIAA0319 gene expression changes, we first examined transcriptome profiles of somatic tissues during human fetal development.

2019年11月1日 · The KIAA0319 gene is one of the most robust dyslexia susceptibility factors but its function remains poorly understood. Initial RNA-interference studies in rats suggested a role in neuronal migration whereas subsequent work with double knock-out mouse models for both Kiaa0319 and its paralogue Kiaa0319-like reported effects in the auditory ...

2010年12月23日 · The KIAA0319 gene encodes a plasma membrane protein with a large, highly glycosylated, extracellular domain. This protein is proposed to function in adhesion and attachment and may play a role during neuronal migration in the developing brain.