Primary Identifier | MGI:1337008 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 11736 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol phosphate binding activity and small GTPase binding activity. Predicted to be involved in cytosolic transport; endosomal vesicle fusion; and positive regulation of pinocytosis. Located in endosome membrane. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; eye; and genitourinary system. Used to study Charlevoix-Saguenay spastic ataxia. Orthologous to human ANKFY1 (ankyrin repeat and FYVE domain containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality with no apparent neural developmental defects on a mixed genetic background but show complete embryonic lethality on highly homogenous genetic backgrounds. [provided by MGI curators] |