Primary Identifier | MGI:107277 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 17281 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity. Predicted to be involved in plus-end-directed vesicle transport along microtubule and positive regulation of autophagosome maturation. Predicted to be located in Golgi apparatus. Predicted to be active in autophagosome; late endosome; and lysosome. Is expressed in central nervous system; early conceptus; and retina. Human ortholog(s) of this gene implicated in cataract 18. Orthologous to human FYCO1 (FYVE and coiled-coil domain autophagy adaptor 1). PHENOTYPE: Homozygous null mutations of this gene result in reduced autophagic flux, abnormal retention of cellular organelles during lens fiber cell differentiation, and bilateral cataract formation. [provided by MGI curators] |