KIAA0226
KIAA0226: Unveiling a Gene Linked to Neurological Disorders
Description:
KIAA0226, also known as Anoctamin-6, is a gene that encodes a protein involved in various physiological processes, including fluid transport, cell volume regulation, and ion homeostasis. It is located on chromosome 15q22.31 and has been linked to several neurological disorders.
Associated Diseases:
KIAA0226 mutations have been primarily associated with the following neurological conditions:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): A genetic disorder characterized by progressive white matter lesions and strokes, leading to cognitive decline and dementia.
- Familial British Dementia (FBD): A rare inherited form of dementia with early onset and rapid progression, resulting in severe cognitive impairment and behavioral problems.
- Infantile-Onset Episodic Angioedema (IOEA): A rare genetic syndrome characterized by episodes of severe, non-allergic swelling affecting the face, limbs, and abdomen.
- Developmental and Epileptic Encephalopathies (DEEs): A group of severe brain disorders that manifest as developmental delays, seizures, and autistic-like behaviors.
Did you Know ?
According to a study published in the journal "Neurology," mutations in the KIAA0226 gene account for approximately 50% of cases of CADASIL, making it the most common genetic cause of this disorder.
