Primary Identifier | MGI:2443301 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228368 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GDP-fucose transmembrane transporter activity. Involved in 'de novo' GDP-L-fucose biosynthetic process and GDP-L-fucose salvage. Acts upstream of or within lipid glycosylation and negative regulation of Notch signaling pathway. Is active in Golgi membrane. Is expressed in several structures, including alimentary system; forelimb bud; integumental system; respiratory system; and telencephalon. Used to study congenital disorder of glycosylation type IIc. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIc. Orthologous to human SLC35C1 (solute carrier family 35 member C1). PHENOTYPE: Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion. Mortality is increased on an inbred background. [provided by MGI curators] |