Primary Identifier | MGI:2156687 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 170441 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable D-glucose transmembrane transporter activity and dehydroascorbic acid transmembrane transporter activity. Predicted to be involved in D-glucose import across plasma membrane; circulatory system development; and dehydroascorbic acid transport. Predicted to act upstream of or within several processes, including cell redox homeostasis; regulation of macromolecule biosynthetic process; and regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in cytosol and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Is expressed in nervous system. Human ortholog(s) of this gene implicated in arterial tortuosity syndrome. Orthologous to human SLC2A10 (solute carrier family 2 member 10). PHENOTYPE: Mice carrying ENU-induced mutations in this gene display thickening and aberrant vessel wall shape of large and medium size arteries, with significantly increased elastic fiber number and size. Cerebral arteries appear normal with no evidence of tortuosity, stenosis/dilatation or aneurysm. [provided by MGI curators] |