solute carrier family 40 (iron-regulated transporter), member 1
Synonyms
duodenal-specific gene
Dusg
Biotype
protein coding gene
Automated Description
Enables ferrous iron transmembrane transporter activity; identical protein binding activity; and peptide hormone binding activity. Involved in iron ion export across plasma membrane and multicellular organismal-level iron ion homeostasis. Acts upstream of or within several processes, including iron ion transmembrane transport; positive regulation of transcription by RNA polymerase II; and spleen trabecula formation. Located in basolateral plasma membrane and synaptic vesicle. Is expressed in several structures, including central nervous system; extraembryonic component; genitourinary system; gut; and hemolymphoid system gland. Used to study hemochromatosis type 4. Human ortholog(s) of this gene implicated in hemochromatosis type 4. Orthologous to human SLC40A1 (solute carrier family 40 member 1).
MGI Description
PHENOTYPE: Mice homozygous for a targeted mutation exhibit embryonic lethality before embryo turning. Mice heterozygous for a targeted mutation display decreased thermal response latency. Mice heterozygous for an ENU induced mutation display abnormal iron homeostasis. [provided by MGI curators]