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- Table of Contents
Facts about Membrane protein MLC1.
Human | |
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Gene Name: | MLC1 |
Uniprot: | Q15049 |
Entrez: | 23209 |
Belongs to: |
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No superfamily |
LVM; megalencephalic leukoencephalopathy with subcortical cysts 1; WKL1
Mass (kDA):
41.141 kDA
Human | |
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Location: | 22q13.33 |
Sequence: | 22; NC_000022.11 (50059391..50085875, complement) |
Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.
Membrane; Multi-pass membrane protein. Cell membrane. Cytoplasm, perinuclear region. Endoplasmic reticulum.
PMID: 11326298 by Meyer J., et al. A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.
PMID: 22328087 by Lanciotti A., et al. Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.