基因名:
VAT1L
产品别名:
VAT1L; vesicle amine transport 1 like; vesicle amine transport 1 like; synaptic vesicle membrane protein VAT-1 homolog-like; vesicle amine transport protein 1 homolog (T. californica)-like; vesicle amine transport protein 1 homolog-like (T. californica); 囊泡胺转运蛋白1家族蛋白; 突触小泡膜蛋白同源样蛋白1;
背景信息:
Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The KIAA1576 gene product has been provisionally designated KIAA1576 pending further characterization.