Primary Identifier | MGI:103182 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 20509 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables folic acid transmembrane transporter activity and methotrexate transmembrane transporter activity. Involved in folate import across plasma membrane and methotrexate transport. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including abdominal aortic aneurysm; cleft lip; dextro-looped transposition of the great arteries; hematologic cancer; and malaria. Orthologous to human SLC19A1 (solute carrier family 19 member 1). PHENOTYPE: Homozygous null embryos die due to abnormalities of hematopoietic organs. Mutant mice may be partially rescued with maternal folic acid supplementation, but these mice still present with hematopoietic organ defects and show impaired development of urogenital structures. [provided by MGI curators] |