5cx3

Structural highlights

Disease

[FYCO1_HUMAN] Nuclear cataract. The disease is caused by mutations affecting the gene represented in this entry. Pathogenic mutations in FYCO1 can affect intracellular transport of autophagocytic vesicles from the perinuclear area to the periphery, leading to an accumulation of large numbers of vesicles and hence loss of lens transparency (PubMed:21636066).^[1]

Function

[MLP3A_HUMAN] Involved in formation of autophagosomal vacuoles (autophagosomes). [FYCO1_HUMAN] May mediate microtubule plus end-directed vesicle transport.^[2]

References

1. ↑ Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-38. doi: 10.1016/j.ajhg.2011.05.008. PMID:21636066 doi:http://dx.doi.org/10.1016/j.ajhg.2011.05.008
2. ↑ Pankiv S, Alemu EA, Brech A, Bruun JA, Lamark T, Overvatn A, Bjorkoy G, Johansen T. FYCO1 is a Rab7 effector that binds to LC3 and PI3P to mediate microtubule plus end-directed vesicle transport. J Cell Biol. 2010 Jan 25;188(2):253-69. PMID:20100911 doi:http://dx.doi.org/jcb.200907015