KIAA0319
Encyclopedia
KIAA0319 is a protein
which in humans is encoded by the KIAA0319 gene
.
.
Reading disability, or dyslexia, is a major social, educational, and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to the disorder, with heritable variation estimated at 50 to 70%.
-mediated endocytic pathway
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the KIAA0319 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Clinical significance
Variants of the KIAA0319 gene have been associated with developmental dyslexiaDyslexia
Dyslexia is a very broad term defining a learning disability that impairs a person's fluency or comprehension accuracy in being able to read, and which can manifest itself as a difficulty with phonological awareness, phonological decoding, orthographic coding, auditory short-term memory, or rapid...
.
Reading disability, or dyslexia, is a major social, educational, and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to the disorder, with heritable variation estimated at 50 to 70%.
Function
The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore KIAA0319 follows a clathrinClathrin
Clathrin is a protein that plays a major role in the formation of coated vesicles. Clathrin was first isolated and named by Barbara Pearse in 1975. It forms a triskelion shape composed of three clathrin heavy chains and three light chains. When the triskelia interact they form a polyhedral lattice...
-mediated endocytic pathway