Features include always present findings: Nyctalopia, Global developmental delay, Pigmentary retinopathy, and Postaxial polydactyly and others; and common findings: Obesity and Intellectual disability. 12 total HPO annotations.

ARL6 encodes ARF like GTPase 6 (186 aa). Involved in membrane protein trafficking at the base of the ciliary organelle. Highest expression in Brain Cerebellar Hemisphere (8.9 TPM) and Brain Frontal Cortex BA9 (8.9 TPM).

Bardet-Biedl syndrome 3 is associated with mutations in the ARL6 gene on chromosome 3.

The ARL6 protein participates in ARL6:GTP:BBSome:ciliary cargo, ARL6:GTP and the BBSome bind ciliary cargo, and ARL6:GTP and the BBSome target cargo to the primary cilium pathways.

ARL6 is classified as a druggable target with score 0.0.

Genetic testing for ARL6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Bardet-Biedl syndrome 3 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 2 common features.

No clinical trials have been registered for Bardet-Biedl syndrome 3.

3 publications have been identified in PubMed for Bardet-Biedl syndrome 3. Research spans Diagnostic / Biomarker (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Asghar A (2025). [PMID: 40384762](https://pubmed.ncbi.nlm.nih.gov/40384762/). *Molecular vision*. [Diagnostic / Biomarker]

• Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Frontiers in genetics*. [Basic Science / Preclinical]

• Yu QX (2024). [PMID: 38840299](https://pubmed.ncbi.nlm.nih.gov/38840299/). *Prenatal diagnosis*. [Epidemiology / Natural History]