NBEAL1 is a 2,694 amino acid protein that belongs to the WD repeat Neurobeachin family. While highly expressed in kidney, brain, prostate and testis, NBEAL1 is also found at low levels in peripheral blood leukocytes, small intestine, ovary and colon. NBEAL1 contains one BEACH domain and two WD repeats, and undergoes alternative splicing to produce two isoforms. The gene encoding NBEAL1 maps to human chromosome 2, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alstr syndrome.