Description: Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA. RefSeq Summary (NM_139202): 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]. Transcript (Including UTRs) Position: hg19 chr22:50,497,820-50,523,781 Size: 25,962 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr22:50,500,012-50,523,331 Size: 23,320 Coding Exon Count: 11
ID:MLC1_HUMAN DESCRIPTION: RecName: Full=Membrane protein MLC1; FUNCTION: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. SUBUNIT: Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cell membrane. Cytoplasm, perinuclear region. Endoplasmic reticulum. TISSUE SPECIFICITY: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. DISEASE: Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]. 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. SEQUENCE CAUTION: Sequence=BAA04947.3; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLC1"; WEB RESOURCE: Name=Mendelian genes megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/MLC1";
bipolar disorder catatonia schizophrenia Selch, S. et al. 2007, MLC1Polymorphisms Are Specifically Associated with Periodic Catatonia, a Subgroup of Chronic Schizophrenia, Biol Psychiatry 2007.
[PubMed 17210142]
The MLC1 variation is associated with periodic catatonia; whether it constitutes a susceptibility or a modifier gene has to be determined.
schizophrenia; bipolar disorder Verma, R. et al. 2005, MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India., Biological psychiatry. 2005 Jul;58(1):16-22.
[PubMed 15992519]
Association of MLC1 with SCZ and BPAD suggests involvement of a common pathway. Rare missense mutations and common variants associated with BPAD favors hypothesis about likely involvement of both rare and common polymorphisms in etiology of this complex disorder.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q15049
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0008565 protein transporter activity GO:0044877 macromolecular complex binding
Biological Process: GO:0006811 ion transport GO:0015031 protein transport GO:0016192 vesicle-mediated transport GO:0032388 positive regulation of intracellular transport GO:0047484 regulation of response to osmotic stress GO:0051259 protein oligomerization GO:0071397 cellular response to cholesterol GO:0072584 caveolin-mediated endocytosis
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