Primary Identifier | MGI:1916948 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 69698 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables riboflavin transmembrane transporter activity. Involved in flavin adenine dinucleotide biosynthetic process and riboflavin metabolic process. Acts upstream of or within cellular response to heat. Is active in plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; inner ear vestibular component; and liver. Human ortholog(s) of this gene implicated in Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease. Orthologous to human SLC52A3 (solute carrier family 52 member 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators] |