Features include always present findings: Decreased liver function, Periportal fibrosis, Decreased activity of mitochondrial complex III, and Global developmental delay and others; and common findings: Delayed CNS myelination, Aminoaciduria, Hypertyrosinemia, and Elevated circulating alkaline phosphatase concentration and others. 53 total HPO annotations.

BCS1L encodes BCS1 ubiquinol-cytochrome c reductase complex chaperone (419 aa). Chaperone necessary for the incorporation of Rieske iron-sulfur protein UQCRFS1 into the mitochondrial respiratory chain complex III. Highest expression in Cervix Endocervix (49.0 TPM) and Cervix Ectocervix (46.8 TPM).

Mitochondrial complex III deficiency nuclear type 1 is associated with mutations in the BCS1L gene on chromosome 2.

The BCS1L protein participates in BCS1L:LETM hexamer and LETM1 exchanges protons (mitochondrial intermembrane space) for calcium (mitochondrial matrix) pathways.

BCS1L is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for BCS1L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial complex III deficiency nuclear type 1 has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 14 common features.

No clinical trials have been registered for mitochondrial complex III deficiency nuclear type 1.

61 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 1. Research spans Basic Science / Preclinical (70%), Case Report / Case Series (13%), and Review / Meta-Analysis (8%).