Features include always present findings: Flexion contracture, Reduced visual acuity, Intellectual disability, and Spastic paraparesis and others; and very common findings: Photophobia and Macular dots. 24 total HPO annotations.

ALDH3A2 encodes aldehyde dehydrogenase 3 family member A2 (485 aa). Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Highest expression in Adrenal Gland (205.3 TPM) and Skin Not Sun Exposed Suprapubic (181.3 TPM).

Sjogren-Larsson syndrome is associated with mutations in the ALDH3A2 gene on chromosome 17.

The ALDH3A2 protein participates in ALDH3A2-2 oxidizes pristanal to pristanate, ALDH3A2-1 oxidises HD2NAL to PALM, and Unknown dehydrogenase oxidizes 4-HBz pathways.

ALDH3A2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 5.8.

Genetic testing for ALDH3A2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 always present features, 2 very common features, 3 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

25 publications have been identified in PubMed for Sjogren-Larsson syndrome. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).