rs587777218

This is a protein-altering variant in the LYRM4 gene.

ClinVar annotation

Pathogenic
1 submitter1 publication

Combined oxidative phosphorylation deficiency 19

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About LYRM4

The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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