Neurobeachin-like protein 1 (NBEAL1)

Neurobeachin-like protein 1 (NBEAL1) is a large, multi-domain cytosolic protein belonging to the BEACH (Beige and Chediak-Higashi) domain-containing family, characterized also by WD40 repeats and a pleckstrin-homology-like domain. It is encoded by the NBEAL1 gene on chromosome 2q33.2 in humans. NBEAL1 is predicted to function in vesicle trafficking, membrane dynamics, cytoskeletal assembly, receptor signaling, pre-mRNA processing, and protein localization, with evidence for roles in both neuronal and non-neuronal tissues. Expression is highest in brain, kidney, prostate, testis, and arteries, and is notably upregulated in some lower-grade gliomas and in arterial tissue. Genetic variants in NBEAL1 are linked to altered risk of coronary artery disease and modulate cholesterol metabolism by affecting SREBP2 processing and LDL uptake. Though not yet a defined therapeutic target, ongoing research suggests possible relevance to neurodegenerative disease, some cancers, and cardiovascular disease. No clinically tested drugs are currently known to act on NBEAL1, and there are no established safety or efficacy biomarkers or mechanistic drug insights available at this time.

Other names

ALS2CR16ALS2CR17MGC164581A530083I02Rikamyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 proteinamyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 proteinbeach