GTR Home > Genes

GLRX5 glutaredoxin 5

Gene ID: 51218, updated on 5-Jan-2022
Gene type: protein coding
Also known as: GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Sideroblastic anemia 3, pyridoxine-refractory
MedGen: C4225155OMIM: 616860GeneReviews: Not available
See labs
Spasticity, childhood-onset, with hyperglycinemia
MedGen: C4225178OMIM: 616859GeneReviews: Not available
See labs

Genomic context

Location:
14q32.13
Sequence:
Chromosome: 14; NC_000014.9 (95535050..95544714)
Total number of exons:
2

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center