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Mlc1
Gene Detail
Symbol

Name
ID
Mlc1
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
MGI:2157910
Synonyms
Kiaa0027-hp, mKIAA0027, WKL1
Feature Type
protein coding gene
Genetic Map
Chromosome 15
44.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr15:88955884-88979007 bp, - strand
From VEGA annotation of GRCm38

  23124 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:15775  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MLC1
Gene Tree: Mlc1

Human
homologs
MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 23209
neXtProt AC: NX_Q15049

Human Synonyms: LVM, MLC, VL

Human Chr (Location): 22q13.33; chr22:50059391-50085929 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MLC1

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Radiation induced(1) Targeted(7)
Genomic Mutations involving Mlc1 (1)
Incidental mutations (data from Mutagenetix , APF )
Phenotype Images(2)
Interactions
Mlc1 interacts with 176 markers (Mir15a, Mir22, Mir23a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process caveolin-mediated endocytosis, cellular response to cholesterol, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function protein binding, protein complex binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (81)    Tissues (9)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 80
RT-PCR 1
cDNA source data(38)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mlc1 ; ZFIN mlc1    NEW 
Molecular
reagents
All nucleic(39) cDNA(38) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000020982 (Evidence)
Ensembl Gene Model ENSMUSG00000035805 (Evidence)
Entrez Gene 170790 (Evidence)
UniGene 32780
DFCI TC1651067, TC1575501
DoTS DT.40181528, DT.94157529, DT.91553458
NIA Mouse Gene Index U036517
Consensus CDS Project CCDS37173.1
International Mouse Phenotyping Consortium Status Mlc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020982 VEGA Gene Model | MGI Sequence Detail 23124 C57BL/6J ±  kb
transcript OTTMUST00000049618 VEGA | MGI Sequence Detail 2801 Not Applicable 
polypeptide OTTMUSP00000023021 VEGA | MGI Sequence Detail 388 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(8) UniProt(4)
Polymorphisms
SNPs within 2kb(120 from dbSNP Build 137)    SNPs within 2kb including multiple locations(128)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000010437 membrane protein MLC1
References
(Earliest) J:76197 Leegwater PA, et al., Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet. 2002 Mar;110(3):279-83
(Latest) J:210308 Hoegg-Beiler MB, et al., Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. Nat Commun. 2014;5:3475
All references(40)
Other
accession IDs
MGI:2146178, MGI:2146258

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory