DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome.
