FYCO1

This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2).

Full Name

FYVE And Coiled-Coil Domain Containing 1

Function

May mediate microtubule plus end-directed vesicle transport.

Biological Process

Plus-end-directed vesicle transport along microtubule Source: UniProtKB
Positive regulation of autophagosome maturation Source: ParkinsonsUK-UCL

Cellular Location

Endosome; Lysosome; Autophagosome. Localizes to the external but not to the internal membrane of autophagosomes, and upon autophagosome/late endosome/lysosome fusion, it stays on the external surface of autolysosomes.

Involvement in disease

Cataract 18 (CTRCT18):
The disease is caused by variants 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). An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.