基因名:
CMC2
产品别名:
2310061C15Rik; C16orf61; DC13; CMC2; C-X9-C motif containing 2; C-X9-C motif containing 2; COX assembly mitochondrial protein 2 homolog; C-x(9)-C motif containing 2; 16号染色体开放阅读框61;
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 C16orf61 gene product has been provisionally designated C16orf61 pending further characterization