Features include always present findings: Strabismus, Ragged-red muscle fibers, Myopathy, and Generalized non-motor (absence) seizure and others. 20 total HPO annotations.

NUBPL encodes NUBP iron-sulfur cluster assembly factor, mitochondrial (319 aa). Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). Highest expression in Cells Cultured fibroblasts (10.0 TPM) and Ovary (7.6 TPM).

Mitochondrial complex I deficiency, nuclear type 21 is associated with mutations in the NUBPL gene on chromosome 14.

The NUBPL protein participates in NUBPL transfers 4Fe-4S to NDUFV1, V2 pathway.

NUBPL is classified as a druggable target with score 5.0.

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

Phenotype severity distribution: 12 always present features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 21.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 21. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

• de la Calle Arregui C (2025). [PMID: 41427350](https://pubmed.ncbi.nlm.nih.gov/41427350/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

• Alhamad AR (2025). [PMID: 40709164](https://pubmed.ncbi.nlm.nih.gov/40709164/). *Cureus*. [Case Report / Case Series]

• Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Frontiers in neurology*. [Review / Meta-Analysis]

• Marshall AE (2024). [PMID: 38477541](https://pubmed.ncbi.nlm.nih.gov/38477541/). *American journal of medical genetics. Part A*. [Case Report / Case Series]