rs374514431

This is a variant in the NFU1 gene that changes a glycine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆

9 submitters10 publications

Multiple mitochondrial dysfunctions syndrome 1 (MMDS1); NFU1-related disorder

About NFU1

This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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