Features include always present findings: Elevated circulating aspartate aminotransferase concentration, Delayed speech and language development, Mild intellectual disability, and Dysmetria and others. 13 total HPO annotations.

ACOX2 encodes acyl-CoA oxidase 2 (681 aa). Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids. Capable of oxidizing short as well as long chain 2-methyl branched fatty acids Highest expression in Liver (88.9 TPM) and Thyroid (37.4 TPM).

Congenital bile acid synthesis defect 6 is caused by mutations in the ACOX2 gene on chromosome 3.

The ACOX2 protein participates in ACOX2:FAD, ACOXL:FAD, ACOX2:FAD, ACOXL:FAD oxidise (2S)-pristanoyl-CoA to trans-2,3-dehydropristanoyl-CoA, and 25(S) DHCA-CoA is dehydrogenated to 25(S) 3alpha,7alpha-dihydroxy-5beta-cholest-24-enoyl-CoA pathways.

ACOX2 is classified as a druggable target (Enzyme category) with score 0.0.

4 pathogenic variants reported in ACOX2 in ClinVar, including hotspot variant 710623.

Genetic testing for ACOX2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital bile acid synthesis defect 6 has been reported in the published literature.

Phenotype severity distribution: 12 always present features.

No clinical trials have been registered for congenital bile acid synthesis defect 6.

14 publications have been identified in PubMed for congenital bile acid synthesis defect 6. Research spans Diagnostic / Biomarker (29%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (21%).