HEPACAM
Domain
The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.
Function
Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation (PubMed:15885354, PubMed:15917256). In glia, associates and targets CLCN2 at astrocytic processes and myelinated fiber tracts where it may regulate transcellular chloride flux involved in neuron excitability (PubMed:22405205).
Involvement in disease
Megalencephalic leukoencephalopathy 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Cellular localization
- Cytoplasm
- Cell membrane
- Single-pass type I membrane protein
- Cytoplasmic side
- Colocalizes with CLCN2 at astrocyte end-foot in contact with brain capillaries and other glial cells (By similarity). 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.
Alternative names
Hepatic and glial cell adhesion molecule, glialCAM, Hepatocyte cell adhesion molecule, Protein hepaCAM, HEPACAM