Features include: Epicanthus, Agammaglobulinemia, Hypertelorism, and High palate and 1 more.

LRRC8A encodes leucine rich repeat containing 8 VRAC subunit A (810 aa). Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. Highest expression in Artery Aorta (126.3 TPM) and Artery Tibial (104.0 TPM).

Agammaglobulinemia 5, autosomal dominant is associated with mutations in the LRRC8A gene on chromosome 9.

The LRRC8A protein participates in VRAC heteromer transports I-, Cl- from cytosol to extracellular region and High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells pathways.

LRRC8A is classified as a druggable target (Cell Surface, Ion Channel, and Transporter categories) with score 0.0.

Genetic testing for LRRC8A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for agammaglobulinemia 5, autosomal dominant has been reported in the published literature.

No clinical trials have been registered for agammaglobulinemia 5, autosomal dominant.

106 publications have been identified in PubMed for agammaglobulinemia 5, autosomal dominant. Research spans Clinical Trial Publication (28%), Review / Meta-Analysis (26%), and Epidemiology / Natural History (23%).