GLRX5

Chr 14AR

glutaredoxin 5

Also known as: C14orf87, FLB4739, GRX5, PR01238, PRO1238, PRSA, SIDBA3, SPAHGC

NCBI Gene: 51218 ENSG00000182512 UniProt: Q86SX6 OMIM: 609588

The encoded mitochondrial protein facilitates iron-sulfur cluster biogenesis, which is essential for normal iron homeostasis. Autosomal recessive mutations cause pyridoxine-refractory sideroblastic anemia and childhood-onset spasticity with hyperglycinemia. Pathogenicity results from disrupted iron-sulfur cluster assembly, leading to impaired cellular iron metabolism and mitochondrial dysfunction.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Anemia, sideroblastic, 3, pyridoxine-refractoryMIM #616860

Spasticity, childhood-onset, with hyperglycinemiaMIM #616859

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

0.66

LOEUF

GOF

Mechanism· predicted

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GeneReview available — GLRX5