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MGP005600

UniProt Annotations

Entry Information
Gene NameLYR motif containing 4
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
DiseaseCombined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595]: A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. {ECO:0000269|PubMed:23814038}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for nuclear and mitochondrial iron-sulfur protein biosynthesis. {ECO:0000269|PubMed:17331979, ECO:0000269|PubMed:19454487}.
MiscellaneousReduction of LYRM4 levels by siRNA increases the total iron content, and reduces cytosolic and mitochondrial aconitase activities and NFS1 protein levels.
PathwayCofactor biosynthesis; iron-sulfur cluster biosynthesis.
SimilarityBelongs to the complex I LYR family. {ECO:0000305}.
Subcellular LocationMitochondrion. Nucleus.
SubunitInteracts with FXN. Interaction is increased by nickel. Interaction is inhibited by calcium, magnesium, manganese, copper, cobalt, zinc, and iron. Forms a complex with the cytosolic/nuclear form of NFS1. The complex increased the stability of NFS1. {ECO:0000269|PubMed:17331979, ECO:0000269|PubMed:18650437, ECO:0000269|PubMed:19454487}.
Tissue SpecificityReduced mRNA levels in Friedreich ataxia patients. {ECO:0000269|PubMed:17331979}.
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