HEPACAM Antibody – Rabbit Polyclonal

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]

Function: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation. Ref.1 Ref.5

Subunit structure: Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1. Ref.5 Ref.6

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. Ref.1 Ref.5

Induction: Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC cell lines tested. Ref.1

Domain: The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility. Ref.5

Post-translational modification: N-glycosylated. Ref.1 Ref.5

Involvement in disease: Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.Contains 1 Ig-like V-type (immunoglobulin-like) domain.