Hepatocyte Cell Adhesion Molecule (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]

HEPACAM: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation. Defects in HEPACAM are the cause of leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A). MLC2A is 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. Defects in HEPACAM are the cause of leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B). MLC2B is 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q24.2

Cellular Component: axon; cytoplasm; integral to membrane; intercellular junction

Biological Process: regulation of growth; cell cycle arrest; cell adhesion

Disease: Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation; Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a; Megalencephalic Leukoencephalopathy With Subcortical Cysts 1