GLRX3

Chr 10

glutaredoxin 3

Also known as: GLRX4, GRX3, GRX4, PICOT, TXNL2, TXNL3

NCBI Gene: 10539 ENSG00000108010 UniProt: O76003 OMIM: 612754

This protein functions as a cytosolic iron-sulfur cluster assembly factor that facilitates [2Fe-2S] cluster insertion into cytosolic proteins and is required for hemoglobin maturation. Mutations cause autosomal recessive myopathy with lactic acidosis and sideroblastic anemia, typically presenting in infancy with severe anemia and muscle weakness. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.477), reflecting its essential role in cellular iron-sulfur metabolism.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

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

—

P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted