Involvement in disease
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A); Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)
Subcellular Location
Cytoplasm. Membrane; Single-pass type I membrane protein; Cytoplasmic side. Note=In MCF-7 breast carcinoma and hepatic Hep 3B2.1-7 and Hep-G2 cell lines, localization of HEPACAM is cell density-dependent. In well spread cells, localized to punctate structures in the perinuclear membrane, cytoplasm, and at cell surface of protusions. In confluent cells, localized predominantly to the cytoplasmic membrane, particularly in areas of cell-cell contacts. Colocalizes with CDH1.