Primary Identifier | MGI:1316650 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 14385 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucose 6-phosphate:phosphate antiporter activity. Involved in gluconeogenesis. Acts upstream of or within several processes, including cholesterol homeostasis; glucose-6-phosphate transport; and hemopoiesis. Is active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; liver; and spleen. Used to study glycogen storage disease Ia. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type II; glycogen storage disease Ib; and glycogen storage disease Ic. Orthologous to human SLC37A4 (solute carrier family 37 member 4). PHENOTYPE: Homozygous null mice exhibit disrupted glucose homeostasis, transient neutropenia associated with impaired neutrophil trafficking and function. Mice are growth retarded and, without glucose therapy, die postnatally. [provided by MGI curators] |