Structural highlights
Disease
HECAM_HUMAN Megalencephalic leukoencephalopathy with subcortical cysts;Macrocephaly-intellectual disability-autism syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
HECAM_HUMAN 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).[1] [2] [3]
References
- ↑ Chung Moh M, Hoon Lee L, Shen S. Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma. J Hepatol. 2005 Jun;42(6):833-41. PMID:15885354 doi:10.1016/j.jhep.2005.01.025
- ↑ Moh MC, Zhang C, Luo C, Lee LH, Shen S. Structural and functional analyses of a novel ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells. J Biol Chem. 2005 Jul 22;280(29):27366-74. PMID:15917256 doi:10.1074/jbc.M500852200
- ↑ Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, Martínez A, Jentsch TJ, Gasull X, Pusch M, Estévez R. GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit. Neuron. 2012 Mar 8;73(5):951-61. PMID:22405205 doi:10.1016/j.neuron.2011.12.039
