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Gene Information
Gene ID:23209
Full Name:megalencephalic leukoencephalopathy with subcortical cysts 1
Organism:Homo sapiens (Human)
Genetic Location:22q13.33
Physical Location:48839946-48866484 on NC_000022.9, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:AA703765
Fold Change:-1.6, -1.7
Note:Differential Expression on the cDNA array (two fold changes are from two case groups)
Dataset Information
Tissue:Frontal cortex
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Lewohl et al. Alcohol Clin Exp Res. (2000) Gene expression in human alcoholism: microarray analysis of frontal cortex. PubMed
Summary:RNA was extracted from postmortem samples of superior frontal cortex of alcoholics and nonalcoholics. Relative levels of RNA were determined by array techniques. This study used both cDNA and oligonucleotide microarrays to provide coverage of a large number of genes and to allow cross-validation for those genes represented on both types of arrays. Expression levels were determined for over 4000 genes and 163 of these were found to differ by 40% or more between alcoholics and nonalcoholics.
Gene Information
Original ID1:D25217
Fold Change:2.37
Dataset Information
Tissue:Prefrontal cortex
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Iwamoto et al. Neurosci Res. (2004) Decreased expression of NEFH and PCP4/PEP19 in the prefrontal cortex of alcoholics. PubMed
Summary:We have performed oligonucleotide microarray analysis in postmortem prefrontal cortices of alcoholics. Among about 12,000 genes represented on microarray, a total of 79 genes showed differential expression changes in alcoholics compared with control subjects, consisting of 54 up- and 25 down-regulated genes.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_015166.3NP_055981.1NC_000022.9 range: 48839946..48866484, complement
NM_139202.2NP_631941.1NC_000022.9 range: 48839946..48866484, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0000299integral to membrane of membrane fractionCellular ComponentTAS (11254442)
GO:0016020membraneCellular ComponentIEA
GO:0016021integral to membraneCellular ComponentIEA
GO:0003674molecular_functionMolecular FunctionND (11254442)
GO:0005216ion channel activityMolecular FunctionIEA
GO:0006811ion transportBiological ProcessIEA
GO:0008150biological_processBiological ProcessND (11254442)
Other Database Cross Links
NCBI Entrez Gene:23209
HuGE Navigator:23209