Features include always present findings: Lethargy, Hepatic steatosis, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Aminoaciduria and others; and very common findings: Disseminated intravascular coagulation. 24 total HPO annotations.

NFS1 encodes NFS1 cysteine desulfurase (457 aa). Cysteine desulfurase, of the core iron-sulfur cluster (ISC) assembly complex, that catalyzes the desulfuration of L-cysteine to L-alanine, as component of the cysteine desulfurase complex, leading to the formation of a cysteine persulfide intermediate at the active site cysteine residue and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU. Highest expression in Testis (35.4 TPM) and Adrenal Gland (29.8 TPM).

Combined oxidative phosphorylation deficiency 52 is associated with mutations in the NFS1 gene on chromosome 20.

The NFS1 protein participates in FXN:NFS1:ISD11:ISCU:2Fe-2S Cluster, 2 Iron:FXN:NFS1:ISD11:ISCU, and PXLP-K198-NFS1 transfers sulfur from cysteine onto MOCS3 pathways.

NFS1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for NFS1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 11 always present features, 1 very common feature, 9 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 52.

20 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 52. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (30%), and Gene Therapy / Novel Therapeutics (20%).