LYRM4
Function
Stabilizing factor, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with NDUFAB1, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:17331979, PubMed:31664822). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). May also participates in the iron-sulfur protein biogenesis in the cytoplasm through its interaction with the cytoplasmic form of NFS1 (PubMed:19454487).
Involvement in disease
Combined oxidative phosphorylation deficiency 19
COXPD19
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; iron-sulfur cluster biosynthesis.
Sequence Similarities
Belongs to the complex I LYR family.
Tissue Specificity
Reduced mRNA levels in Friedreich ataxia patients.
Cellular localization
- Mitochondrion
- Nucleus
Alternative names
C6orf149, ISD11, CGI-203, LYRM4, LYR motif-containing protein 4