Property Summary

NCBI Gene PubMed Count 56
Grant Count 9
R01 Count 9
Funding $453,082.6
PubMed Score 190.63
PubTator Score 795.84

Knowledge Summary

Patent (11,070)

Expression

  Differential Expression (10)

Disease log2 FC p
oligodendroglioma 1.500 0.014
osteosarcoma -2.555 0.007
posterior fossa group B ependymoma 1.300 0.000
group 4 medulloblastoma -3.600 0.000
astrocytoma 2.000 0.033
atypical teratoid/rhabdoid tumor -2.200 0.001
medulloblastoma, large-cell -3.500 0.000
tuberculosis 1.100 0.001
lung adenocarcinoma -1.300 0.000
psoriasis -1.800 0.000

Gene RIF (34)

PMID Text
26033718 The extracellular domain of GlialCAM is necessary for cell junction targeting and for mediating interactions with itself or with MLC1 and ClC-2.
25919557 Gene sequencing identified two heterozygous mutations of MLC1, including missense mutation in exon 3 (c.217G>A, p.Gly73Arg) and splice site mutation in intron 9 (c.772-1G>C in IVS9-1).
25497041 Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
24824219 we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.
24561067 This study shows that in astrocytes MLC1 is expressed in early endosomes and recycled through the Rab11+ perinuclear compartment
24315536 clinical spectrum, neuroimaging characteristics and gene involvement in Egyptian patients with megalencephalic leukoencephalopathy with subcortical cysts; deletion/insertion mutation in exon 11 was recurrent in 2 families; a missense mutation in exon 10 was identified in the third family
23793458 results indicate GlialCAM is necessary for MLC1 protein expression, and its reduction affects the activity of volume-regulated anion currents (VRAC) which may cause astrocyte vacuolation; work extends the role of GlialCAM as a chaperone of MLC1 needed for proper VRAC activation
23495687 Proposed is a therapeutic approach for prevention of cardiac contractile dysfunction dependent on MLC1 phosphorylation and degradation.
22416245 Data show that wildtype MLC1(wt) was localized to the cell periphery, whereas mutant R22Q, A32V, G73E, S69L and T118M were trapped in the lumen of endoplasmic reticulum (ER).
22328087 that MLC1 plays a role in astrocyte osmo-homeostasis and that defects in intracellular calcium dynamics may contribute to MLC pathogenesis.
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AA Sequence

MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSL      1 - 70
YLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAI     71 - 140
NINFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAV    141 - 210
LGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLS    211 - 280
FSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERL    281 - 350
AGEVARSPLKEFDKEKAWRAVVVQMAQ                                               351 - 377
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Text Mined References (54)

PMID Year Title
26908604 2016 Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
26033718 2015 Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.
25919557 2015 [Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
25497041 2015 Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24824219 2014 Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
24561067 2014 Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.
24315536 2014 Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.
23793458 2013 Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
23495687 2013 Synergistic protection of MLC 1 against cardiac ischemia/reperfusion-induced degradation: a novel therapeutic concept for the future.
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