2024年12月25日 · MLC1 (Modulator Of VRAC Current 1) is a Protein Coding gene. Diseases associated with MLC1 include Megalencephalic Leukoencephalopathy With Subcortical Cysts …

MLC1 (also called WKL1 [7] [8]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). [9] Evidence exists for at …

The MLC1 gene provides instructions for making a protein that is found primarily in the brain but also in the spleen and white blood cells (leukocytes). Within the brain, the MLC1 protein is …

2003年8月11日 · Classic megalencephalic leukoencephalopathy with subcortical cysts (MLC) is most commonly caused by biallelic pathogenic variants in MLC1 or HEPACAM and inherited in …

2015年4月1日 · Brain edema, subcortical fluid cysts, myelin and astrocyte vacuolation are the histopathological hallmarks of MLC. Mutations in either the MLC1 gene (>75% of patients) or …

2024年2月28日 · Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic brain white matter disease with onset in infancy (van der Knaap et al., 1995a; Singhal et al., …

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor functions with ataxia, and …

2025年1月4日 · MLC1 gene showed up-regulation expression at both the mRNA and protein levels in HCC tissues and that MLC1 plays an important role in the growth of hepatoma cell …

The MLC1 gene provides instructions for making a protein that is found primarily in the brain but also in the spleen and white blood cells (leukocytes). Within the brain, the MLC1 protein is …

Since 1996, major advancements in MLC research have shown that MLC is caused by mutations in two different genes: MLC1 and GlialCAM, allowing for easier diagnosis. Multiple animal …