Gene Report

Basic Info
Approved Symbol MLC1
Symbol Alias MLC, KIAA0027, LVM, VL
Approved Name megalencephalic leukoencephalopathy with subcortical cysts 1
Location 22q13.33
Position chr22:50059391-50085902, -1
External Links HGNC: 17082
Entrez Gene: 23209
Ensembl: ENSG00000100427
UCSC: uc003bjg.1
No. of Studies 5 (Positive: 1; Negative: 4; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 5)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Selch, S., 2007 SNP: rs137936, rs2076137, rs2235349, rs713809 Both intronic and promoter polymorphisms of MLC1 were specifically and significantly associated with periodic catatonia but not bipolar disorder in general. Negative Comment on Study
Verma, R.,2005(b) SNP: rs11568171, rs11568176, rs11568190, rs137930, rs2076127, rs2076137, rs2235349, rs6010260
Haplotype: rs2076127 - ss16339182(A-T), rs2076127 - ss16339182(G-C), rs2076127 - ss16339182(G-T)
In our present study, we found association of MLC1 gene with SCZ and BPAD. This suggests the involvement of MLC1 gene in a common pathway toward the pathogenesis of these two disorders. Positive Comment on Study
Severinsen, J. E., 2006 (b) SNP: rs137931, rs137932, rs6010260
Haplotype: rs137931 - rs6010260(), rs137932 - rs137931(), rs137932 - rs137931 - rs6010260(), rs137931 - rs6010260 - rs138881(), rs137931 - rs6010260 - rs138881 - rs138880(), rs137932 - rs137931 - rs6010260 - rs138881(), rs6010260 - rs138881(), rs6010260 - rs138881 - rs138880(), rs6010260 - rs138881 - rs138880 - rs2239848(), rs2272843 - rs3810971 - rs137932(), rs2272843 - rs3810971 - rs137932 - rs137931(), rs3810971 - rs137932(), rs3810971 - rs137932 - rs137931(), rs3810971 - rs137932 - rs137931 - rs6010260()
The results do not support an association of the gene with BD. Negative Comment on Study
Fallin, M. D.,2005 7 SNP typed, Median D'=0.94, Median r<sup>2</sup> =0.09, 2 LD blocks, 0.93 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP. Negative Comment on Study
Yosifova, A.,2009 SNP: rs11568190, rs2076127 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 29)

GO terms by PBA (count: 4)

GO terms by database search (count: 25)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Related other genetic factors
Gene related SNPs (count: 31)

Literature-origin SNPs (count: 12)

LD-proxies (count: 19)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 4)

Overlap with SZ from candidate gene intersection analysis (count: 6)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr22:50059391..50085902 View in gBrowse
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