KIAA0319
Description
The KIAA0319 (KIAA0319) is a protein-coding gene located on chromosome 6.
KIAA0319 is a protein encoded by the KIAA0319 gene in humans. Variants in this gene have been linked to developmental dyslexia, a reading disability affecting 5-10% of school children. The gene's mutations are also associated with specific language impairment (SLI). KIAA0319 is expressed on the cell membrane and may participate in neuronal migration. It follows a clathrin-mediated endocytic pathway.
KIAA0319 is also known as DYLX2, DYX2, NMIG.
Associated Diseases
- alpha thalassemia-intellectual disability syndrome type 1
- hemolytic anemia due to adenylate kinase deficiency
- Heinz body anemia
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- delta-beta-thalassemia
- hemoglobin D disease
- monosomy 7 myelodysplasia and leukemia syndrome 1
- hereditary elliptocytosis
- hemoglobin C-beta-thalassemia syndrome
- microcytic anemia with liver iron overload
- hemoglobin E disease
