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SPAHGC

Chr 14AR

glutaredoxin 5

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

NCBI Gene: 51218 OMIM: 616859

The protein is involved in mitochondrial iron-sulfur cluster biogenesis, which is required for normal iron homeostasis. Mutations cause autosomal recessive childhood-onset spasticity with hyperglycinemia. This represents an expansion of the phenotypic spectrum beyond the previously reported pyridoxine-refractory sideroblastic anemia.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— SPAHGC

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SPAHGC?content-type=application/json&expand=1

gnomad: Error: Gene not found