Primary Identifier | MGI:1914118 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 66868 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein homodimerization activity. Involved in dipeptide transmembrane transport from lysosomal lumen to cytosol; protein localization to lysosome; and protein stabilization. Located in lysosome. Is active in lysosomal membrane. Is expressed in embryo and renal vasculature. Orthologous to human MFSD1 (major facilitator superfamily domain containing 1). PHENOTYPE: Mice homozygous for a null allele exhibit severe liver disease, with loss of liver sinusoid endothelial cells, liver fibrosis and splenomegaly. Older mice show an increase in liver tumor incidence. [provided by MGI curators] |