gene 1,638 words KG: SLC40A1
Contents

SLC40A1 Gene

🧬 Gene Info
Gene SymbolSLC40A1
Aliasesferroportin
FunctionSLC40A1 encodes ferroportin, the only known iron exporter in mammals.
Primary Expressioncells that export iron, including macrophages, hepatocytes, and enterocytes
PathwaysInflammasome, Nf-Κb
Ensembl IDENSG00000138448
GeneCardsSLC40A1
Human Protein AtlasSLC40A1
Iron exportFerroportin exports iron from cells into the plasma
Systemic iron regulationControls iron entry into circulation from gut, liver, and spleen
Hepcidin receptorFerroportin is the target of hepcidin, the iron regulatory hormone
Cellular iron homeostasisPrevents iron accumulation in macrophages and other cells
Iron overloadMutations lead to iron accumulation in the brain, particularly in the globus pallidus
Motor symptomsPatients present with progressive dystonia, parkinsonism, and gait disturbance
Cognitive declineSome patients develop cognitive impairment
Associated DiseasesALS, Cancer, iron overload
InteractionsASC, C1QA, CD8, COX2, FERROPTOSIS, GPX4
KG Connections84 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Knowledge Graph (12 edges)

SLC40A1 causes iron overload
hepcidin regulates SLC40A1
Nrf2 upregulates SLC40A1
miR-194-5p inhibits SLC40A1
copper regulates SLC40A1
CD8 therapeutic_target SLC40A1
SLC40A1 therapeutic_target C1QA
TLR4 expressed_in SLC40A1
TXNIP expressed_in SLC40A1
SLC40A1 expressed_in ASC

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