JMJD8 (Jumonji domain-containing protein 8) is a 334 amino acid protein that contains one Jumonji domain and is expressed as 3 isoforms produced by alternative splicing. The gene that encodes JMJD8 maps to human chromosome 16, which encodes over 900 genes in approximately 90 million base pairs, making 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 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.
