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 7.1.0) Enables protein homodimerization activity. Involved in protein localization to lysosome and protein stabilization. Located in lysosome. 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] |