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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).
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Protein Aliases: DKFZp779K1152; FLJ13335; FYVE and coiled-coil domain-containing protein 1; MGC126517; MGC126519; RUN and FYVE domain containing 3; Zinc finger FYVE domain-containing protein 7
Gene Aliases: CATC2; CTRCT18; FYCO1; RUFY3; ZFYVE7
UniProt ID: (Human) Q9BQS8
Entrez Gene ID: (Human) 79443
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