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 C16orf72 gene product has been provisionally designated C16orf72 pending further characterization.
Synonyms: C16orf72, Chromosome 16 open reading frame 72, CP072_HUMAN, FLJ41272, Hypothetical protein LOC29035, PRO0149, UPF0472 protein C16orf72.