Human hepatocyte cell adhesion molecule ELISA Kit | HEPACAM elisa kit
Human Hepatocyte cell adhesion molecule, HEPACAM ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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 adhesion; cell cycle arrest
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
Research Articles on HEPACAM
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Product Notes
The Human HEPACAM hepacam (Catalog #AAA9333725) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9333725 ELISA Kit recognizes Human HEPACAM. It is sometimes possible for the material contained within the vial of "hepatocyte cell adhesion molecule, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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