SLC25A37

Chr 8

solute carrier family 25 member 37

Also known as: HT015, MFRN, MFRN1, MSCP

NCBI Gene: 51312 ENSG00000147454 UniProt: Q9NYZ2 OMIM: 610387

SLC25A37 encodes a mitochondrial iron transporter that mediates iron uptake in developing erythroid cells and is essential for heme biosynthesis and iron-sulfur cluster synthesis. Mutations cause autosomal recessive sideroblastic anemia, characterized by defective heme synthesis and abnormal iron accumulation in developing red blood cells. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.63), reflecting its important role in cellular iron metabolism.

OMIM ResearchSummary from RefSeq, UniProt

SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.63

LOEUF

Multiple*

Mechanism· predicted