Primary Identifier | MGI:2142282 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 434204 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable Arp2/3 complex binding activity; microtubule binding activity; and small GTPase binding activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Predicted to be located in Golgi membrane and cytosol. Predicted to be active in endoplasmic reticulum-Golgi intermediate compartment membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and integumental system. Used to study Fanconi syndrome. Orthologous to human WHAMM (WASP homolog associated with actin, golgi membranes and microtubules). PHENOTYPE: Mice homozygous for a knock-out allele exhibit male-specific abnormalities in kidney proximal tubule structure and reabsorption function with increased urinary levels of albumin, glucose, HAVCR1, phosphate, potassium and amino acids, and altered autophagy in kidney tissue. Mouse embryonic fibroblasts show altered autophagosome organization and actin recruitment. [provided by MGI curators] |