Background:
GFOD2 is a 385 amino acid secreted protein of the extracellular matrix that belongs to the gfo/idh/mocA family. Existing as two alternatively spliced isoforms, GFOD2 enhances matrix assembly and is encoded by a gene that maps to human chromosome 16q22.1. Chromosome 16 encodes over 900 genes and comprises nearly 3% of the human genome. 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, as is Crohn's disease, which is a gastrointestinal inflammatory condition.