HEPACAM

The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]

Full Name

Hepatic And Glial Cell Adhesion Molecule

Function

Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.

Biological Process

Cell adhesion Source: UniProtKB-KW
Cell cycle Source: UniProtKB-KW
Cellular protein localization Source: Ensembl
Regulation of growth Source: UniProtKB-KW

Cellular Location

Cytoplasm; Membrane. 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.

Involvement in disease

Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A):
A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B):
A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency.

Topology

Extracellular: 34-240
Helical: 241-261
Cytoplasmic: 262-416

PTM

N-glycosylated.