Features include always present findings: Decreased nasal nitric oxide, Reduced sperm motility, Reduced visual acuity, and Rod-cone dystrophy; and common findings: Situs inversus totalis and Macular atrophy. 12 total HPO annotations.

ARL2BP encodes ARF like GTPase 2 binding protein (163 aa). Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2 Highest expression in Cells Cultured fibroblasts (24.9 TPM) and Testis (19.8 TPM).

Retinitis pigmentosa with or without situs inversus is associated with mutations in the ARL2BP gene on chromosome 16.

The ARL2BP protein participates in ARL2:GTP:ARL2BP translocates from cytosol to the mitochondrial matrix pathway.

ARL2BP is classified as a druggable target with score 0.0.

Genetic testing for ARL2BP is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 2 common features.

No clinical trials have been registered for retinitis pigmentosa with or without situs inversus.

202 publications have been identified in PubMed for retinitis pigmentosa with or without situs inversus. Kisho has analyzed 58 by research type. Research spans Basic Science / Preclinical (48%), Review / Meta-Analysis (26%), and Epidemiology / Natural History (9%).