Gene Symbol | FYCO1 |
Entrez Gene ID | 79443 |
Full Name | FYVE and coiled-coil domain containing 1 |
Synonyms | CATC2,CTRCT18,RUFY3,ZFYVE7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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). [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Cataract 18, autosomal recessive, 610019 (3) |