Primary Identifier | MGI:1345138 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 24064 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables ubiquitin-protein transferase inhibitor activity. Involved in several processes, including negative regulation of cell differentiation; negative regulation of cell projection organization; and regulation of signal transduction. Acts upstream of or within several processes, including cellular response to leukemia inhibitory factor; lung development; and negative regulation of signal transduction. Located in several cellular components, including cytoskeleton; cytosol; and nucleus. Is expressed in several structures, including alimentary system; embryo mesenchyme; epithelium; future brain; and genitourinary system. Used to study achalasia; ciliopathy; intestinal pseudo-obstruction; and prostate cancer. Human ortholog(s) of this gene implicated in IgA glomerulonephritis. Orthologous to human SPRY2 (sprouty RTK signaling antagonist 2). PHENOTYPE: Homozygous null mice exhibit enteric nerve hyperplasia which led to esophangeal achalasia and intestinal pseudo-obstruction. Mice also have intermediate to severe hearing loss with abnormalities in the organ of Corti and about half die prematurely. [provided by MGI curators] |