NP_055981.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
37,974 Da
NCBI Official Full Name
membrane protein MLC1
NCBI Official Synonym Full Names
megalencephalic leukoencephalopathy with subcortical cysts 1
NCBI Official Synonym Symbols
NCBI Protein Information
membrane protein MLC1
UniProt Protein Name
Membrane protein MLC1
UniProt Synonym Gene Names
UniProt Entry Name
MLC1_HUMAN
NCBI Summary for MLC1
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
UniProt Comments for MLC1
MLC1: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1). MLC1 is a syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white- matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes.
Protein type: Cell surface; Membrane protein, integral; Membrane protein, multi-pass; Transporter
Chromosomal Location of Human Ortholog: 22q13.33
Cellular Component: basolateral plasma membrane; caveola; clathrin-coated vesicle; cytoplasm; cytoplasmic vesicle; early endosome; endoplasmic reticulum; endosome; integral to membrane; lipid raft; lysosome; perinuclear region of cytoplasm; plasma membrane; recycling endosome
Molecular Function: protein binding; protein complex binding; protein transporter activity
Biological Process: positive regulation of intracellular transport; protein oligomerization; regulation of response to osmotic stress; vesicle-mediated transport
Disease: Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Research Articles on MLC1
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Products associated with anti-MLC1 antibody
Diseases associated with anti-MLC1 antibody
Organs/Tissues associated with anti-MLC1 antibody
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