Shroom Family, Member 2 (SHROOM2)

APXL (SHROOM2) is a human homolog of the Xenopus laevis APX gene which is implicated in amiloride-sensitive sodium channel activity. The full-length mRNA is approximately 7.5 kb, and Schiaffino et al. (1995) isolated several clones from a retinal cDNA library that corresponded to this mRNA. The authors found that, along with retina, the gene is expressed in melanoma cells, brain, placenta, lung, kidney, and pancreas. The deduced protein is 1,616 amino acids long. APXL was deleted in 2 patients with contiguous gene syndromes including ocular albinism type I (OA1) and in 1 patient with isolated OA1.Shroom2 colocalizes with nonmuscle myosin II . The myosin II inhibitor blebbistatin reversed apical constriction induced by Shroom family members, suggesting that these proteins work through myosin II to regulate cell morphology.