Primary Identifier | MGI:1100870 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 14538 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylglucosaminyltransferase activity. Involved in several processes, including positive regulation of epithelial to mesenchymal transition; positive regulation of intracellular signal transduction; and transforming growth factor beta receptor signaling pathway. Predicted to be located in Golgi apparatus. Is expressed in several structures, including alimentary system; extraembryonic component; nervous system; nose; and trunk mesenchyme. Human ortholog(s) of this gene implicated in cataract and cataract 13 with adult i phenotype. Orthologous to human GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)). PHENOTYPE: Mice homozygous for a knock-out allele show hypoactivity, a reduced B cell number, epidermoid cyst formation in male abdominal skin, and impaired renal function with increased blood urea nitrogen and creatinine levels and vacuolization of renal tubular epithelial cells in aging mice. [provided by MGI curators] |