Gene: SLC40A1

Alternate names for this Gene: FPN1|HFE4|IREG1|MST079|MSTP079|MTP1|SLC11A3

Gene Summary: The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4).

Gene is located in Chromosome: 2

Location in Chromosome : 2q32.2

Description of this Gene: solute carrier family 40 member 1

Type of Gene: protein-coding

rs2882877 in SLC40A1 gene and Corpuscular Hemoglobin Concentration Mean PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs112257498 in SLC40A1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs104893662 in SLC40A1 gene and HEMOCHROMATOSIS, TYPE 4 PMID 12091367 2002 Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).

PMID 12091366 2002 Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.

PMID 15466004 2004 Recent advances in understanding haemochromatosis: a transition state.

PMID 11518736 2001 Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

PMID 12865285 2003 A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.

PMID 15338274 2004 Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

PMID 12123233 2002 A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

PMID 12406098 2002 Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

PMID 11431687 2001 A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

PMID 12730114 2003 Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

PMID 10747949 2000 A novel mammalian iron-regulated protein involved in intracellular iron metabolism.

PMID 12857562 2003 Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.

PMID 16351644 2005 Genetic and clinical heterogeneity of ferroportin disease.

PMID 21396368 2011 Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.

PMID 22584997 2012 Mild iron overload in an African American man with SLC40A1 D270V.

PMID 23943237 2013 Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.

PMID 21411349 2011 Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.

PMID 21199650 2011 Sex and acquired cofactors determine phenotypes of ferroportin disease.

rs112257498 in SLC40A1 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.