Primary Identifier | MGI:95568 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 14275 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable folic acid binding activity; folic acid receptor activity; and signaling receptor activity. Involved in circulatory system development; nervous system development; and regulation of signal transduction. Acts upstream of or within folic acid metabolic process. Predicted to be located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and brush border membrane. Predicted to be active in external side of plasma membrane. Is expressed in several structures, including brain; early conceptus; genitourinary system; gut; and retina. Human ortholog(s) of this gene implicated in cerebral folate receptor alpha deficiency. Orthologous to human FOLR1 (folate receptor alpha). PHENOTYPE: Embryos homozygous for a knock-out allele are growth retarded and malformed, show multiple developmental anomalies, including neural and craniofacial defects, and die by E10. Folate supplementation of pregnant dams reduces embryonic mortality and improves many of the adverse developmental effects. [provided by MGI curators] |