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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MLC1 Gene

protein-coding GIFtS: 54
GCID: GC22M050497

megalencephalic leukoencephalopathy with subcortical cysts...

Explore 21 diseases affiliated with
MLC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1¹ ²		KIAA0027¹ ³
LVM¹ ² ⁵		Membrane Protein MLC1²
VL¹ ² ⁵		WKL1³
MLC¹ ²

External Ids:	HGNC: 17082¹	Entrez Gene: 23209²	Ensembl: ENSG00000100427⁷	OMIM: 605908⁵	UniProtKB: Q15049³

Export aliases for MLC1 gene to outside databases

Previous GC identifers: GC22M047049 GC22M048679 GC22M048800 GC22M033395

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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)

UniProtKB/Swiss-Prot: MLC1_HUMAN, Q15049

Function: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx

Gene Wiki entry for MLC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011526.7

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MLC1 gene promoter:
CREB AML1a deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MLC1 promoter sequence

Search SABiosciences Chromatin IP Primers for MLC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13.33

MLC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLC1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M050497: view genomic region (about GC identifiers)

Start:	50,497,820 bp from pter	End:	50,524,358 bp from pter
Size:	26,539 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MLC1_HUMAN, Q15049 (See protein sequence)

Recommended Name: Membrane protein MLC1

Size: 377 amino acids; 41141 Da

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

Sequence caution: Sequence=BAA04947.3; Type=Erroneous initiation;

Secondary accessions: B3KW61 Q5JZ83 Q8TAG4 Q96RP5 Q9UGY8

Explore the universe of human proteins at neXtProt for MLC1: NX_Q15049

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15049

MLC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_055981.1 NP_631941.1

ENSEMBL proteins:

ENSP00000379216 ENSP00000310375 ENSP00000401385 ENSP00000445805 ENSP00000415877

ENSP00000412448 ENSP00000438910

Human Recombinant Protein Products:

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	Novus Biologicals MLC1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MLC1

Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	15892299
GO:0005764	lysosome	ISS	--
GO:0005768	endosome	IDA	18165104
GO:0005769	early endosome	ISS	--
GO:0005783	endoplasmic reticulum	IDA	--

MLC1 for ontologies About GeneDecksing

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	Uscn Antibodies for MLC1
	Search ThermoFisher Antibodies for MLC1

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	GenScript Custom Assay Services for MLC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MLC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q15049

1 Blocks protein family: IPB001209 Ribosomal protein S14

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MLC1_HUMAN, Q15049

Function: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MLC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLC1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MLC1:
		hsa-miR-137
		SwitchGear 3'UTR luciferase reporter plasmid: MLC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLC1 (see all 7) OriGene shRNA RFP: MLC1 OriGene siRNA: MLC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MLC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLC1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): MLC1 (NM_139202)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MLC1
		Search LifeMap BioReagents cell lines for MLC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLC1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	NAS	11254442
GO:0005216	ion channel activity	--	--
GO:0005515	protein binding	IPI	19931615
GO:0008565	protein transporter activity	ISS	--
GO:0032403	protein complex binding	IDA	17628813

MLC1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Mlc1^tm1Rhn for MLC1
     1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Mlc1):

no phenotypic analysis

MLC1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Colorectal Cancer Metastasis

Colorectal Cancer Metastasis

1.00

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MLC1

Colorectal Cancer Metastasis

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MLC1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

4 Interacting proteins for MLC1 (Q15049³ ENSP00000310375⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DAPK2	Q9UIK4³, ENSP00000261891⁴	I2D: score=1 STRING: ENSP00000261891
MYLK	Q15746³, ENSP00000353452⁴	I2D: score=1 STRING: ENSP00000353452
TPT1	P13693³, ENSP00000368350⁴	I2D: score=1 STRING: ENSP00000368350
MYH3	P11055³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	NAS	11254442
GO:0006811	ion transport	IEA	--
GO:0015031	protein transport	--	--
GO:0016192	vesicle-mediated transport	ISS	--
GO:0032388	positive regulation of intracellular transport	IDA	19931615

MLC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MLC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MLC1
3 Novoseek chemical compound relationships for MLC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mannose	24.4	2	17329372 (1)
leucine	11.1	3	14603469 (1)
glucose	0	2	17329372 (1)

Search CenterWatch for drugs/clinical trials and news about MLC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MLC1 gene (2 alternative transcripts):

NM_015166.3 NM_139202.2

Unigene Cluster for MLC1:

Megalencephalic leukoencephalopathy with subcortical cysts 1

Hs.517729 [show with all ESTs]

Unigene Representative Sequence: NM_015166

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000395876(uc003bjg.1 uc011arl.1) ENST00000311597(uc003bjh.1 uc011arm.1 uc011arn.1 uc011aro.1)

ENST00000483836 ENST00000442311 ENST00000470008 ENST00000538737 ENST00000431262

ENST00000450140 ENST00000535444

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MLC1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLC1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MLC1:
		hsa-miR-137
		SwitchGear 3'UTR luciferase reporter plasmid: MLC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLC1 (see all 7) OriGene shRNA RFP: MLC1 OriGene siRNA: MLC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLC1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLC1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): MLC1 (NM_139202)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLC1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MLC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLC1

Additional cDNA sequence:

AF319633.1 AK124264.1 AK294048.1 AK295106.1 AK297341.1 AK299841.1 BC010518.1 BC028425.2

BC070042.1 BC148226.1 CR456460.1 D25217.3

23 DOTS entries:

DT.100794134 DT.100794135 DT.415635 DT.100802886 DT.75130070 DT.100672055 DT.120641293 DT.75102028

DT.92424179 DT.99957432 DT.120641268 DT.120641277 DT.120641440 DT.120641303 DT.120641373 DT.91710395

DT.100794136 DT.100806371 DT.120641309 DT.120641438 DT.86853324 DT.92002176 DT.92424181

24/109 AceView cDNA sequences (see all 109):

BE855450 CR609767 BX952359 CR456460 AI352392 BC010518 CB155740 T28040

BG152559 BX280729 CB155343 BG222497 D25217 NM_015166 BE672078 NM_139202

CF457258 AF319633 F05369 CR607291 AA417008 AW170034 BX407097 AA703765

GeneLoc Exon Structure

5/20 Alternative Splicing Database (ASD) splice patterns (SP) for MLC1 (see all 20) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	·	3c	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	·	6d	·	6e	^	7	^	8a	·	8b	^	9a	·	9b	·	9c	·	9d	^	10a	·
SP1:									-		-		-		-										-										-		-
SP2:															-										-										-		-
SP3:									-		-		-		-										-		-		-		-		-		-		-
SP4:									-		-		-		-		-								-										-		-
SP5:									-		-		-		-										-										-		-						-		-		-		-

ExUns:	10b	·	10c	·	10d	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	·	17c
SP1:											-				-
SP2:											-				-
SP3:											-
SP4:
SP5:

ECgene alternative splicing isoforms for MLC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MLC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAAGTGGAA

About this image

MLC1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Secondary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Beating embryoid bodies (Cardiac differentiat...)

See MLC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLC1

SOURCE GeneReport for Unigene cluster: Hs.517729

UniProtKB/Swiss-Prot: MLC1_HUMAN, Q15049

Tissue specificity: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and

hippocampus

SABiosciences Expression via Pathway-Focused PCR Array including MLC1:

Osmotic Stress in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MLC1 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mlc1^{1 , 5}	megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) less^{1, 5}	83.69(n)¹ 89.36(a)¹		15 (44.46 cM)⁵ 170790¹ NM_133241.2¹ NP_573504.1¹ 88955884⁵
chicken (Gallus gallus)	Aves	MLC1¹	megalencephalic leukoencephalopathy with subcortical cysts 1 less	69.87(n) 73.87(a)		417737 XM_415981.3 XP_415981.3
lizard (Anolis carolinensis)	Reptilia	MLC1⁶	--	72(a)	1 ↔ 1	5(63808663-63825823)
zebrafish (Danio rerio)	Actinopterygii	mlc1¹	megalencephalic leukoencephalopathy with subcortical cysts 1 less	62.27(n) 56.18(a)		559990 NM_001104939.1 NP_001098409.1

ENSEMBL Gene Tree for MLC1 (if available)
TreeFam Gene Tree for MLC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11568188^1,2	C,F,	non-pathogenic	33400481(-)	`CCAGAA/GCGGCC`	4	N S	mis¹ ese³		6		CA NA EA EU	6393
rs41302601^1,2	C,F,	non-pathogenic	33410930(+)	`TCCACG/TTTCAG`	4	K N	mis¹		2		NA EU	5763
rs6010260^1,2	C,F,H,	non-pathogenic	33414069(+)	`TCTTGC/AAGTCC`	4	/C /F	mis¹ ese³		12		NS EA NA CSA WA EU	6613
rs80358245^1,2	C	pathogenic	33417046(-)	`CCCCTC/TGGCAA`	4	S L	mis¹		0	--	--	--	--
rs80358242^1,2	C	pathogenic	33421356(-)	`GATGGA/GGGTGA`	4	E G	mis¹		0	--	--	--	--
rs6010164^1,2	C,F,	untested	33413496(+)	`CTTACT/CGAGTA`	4	/S	syn¹ ese³		6		NA WA EA EU	6231
rs6010165^1,2	C,F,A,H,	untested	33413499(+)	`ACTGAG/ATAAGA`	4	/Y	syn¹ ese³		19		NS EA NA WA EU	8209
rs2294380^1,2	C,F,	--	33395456(+)	`CCTCTT/ACCCCG`	3	--	us2k¹ ds500¹		2		EA WA	1606
rs79204578^1,2	C,	--	33395571(+)	`TGTCCC/TGATGT`	3	--	us2k¹ ds500¹		2		CSA WA	120
rs41283487^1,2	C,	--	33395860(+)	`CTGTGG/CCTCCC`	3	--	us2k¹ ut3¹		2		NA	122

HapMap Linkage Disequilibrium report for MLC1 (50497820 - 50524358 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MLC1
2 CNVs: 29723 53621
1 Indel: 12278
Human Gene Mutation Database (HGMD): MLC1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MLC1

DNA2.0 Custom Variant and Variant Library Synthesis for MLC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MLC1 for disorders           About GeneDecksing

OMIM gene information: 605908
OMIM disorders: 604004
UniProtKB/Swiss-Prot: MLC1_HUMAN, Q15049

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

20/21 diseases for MLC1 (see all 21): About MalaCards

megalencephalic leukoencephalopathy with subcortical cysts megalencephalic leukoencephalopathy with subcortical cysts 1 visceral leishmaniasis megalencephaly

leukodystrophy bipolar disorder intrahepatic cholangiocarcinoma leishmaniasis

schizophrenia cholangiocarcinoma spasticity liver cancer

t-cell leukemia laryngitis prostate cancer ataxia

leukemia cholesterol hypoxia prostatitis

9 Novoseek disease relationships for MLC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
schizophrenia catatonic	88.6	11	14603469 (2), 14755440 (1), 15992519 (1), 11935341 (1)
macrocephaly	87.7	1	17434314 (1)
myelinopathy	75.2	1	16470554 (1)
leukodystrophy	73.8	6	15037685 (3), 18757878 (1), 19931615 (1)
cysts	73.2	27	15037685 (2), 15367490 (2), 18757878 (2), 16470554 (2) (see all 19)
epilepsy	31.2	1	17434314 (1)
neurological disorders	30	2	18165104 (1), 15367490 (1)
schizophrenia	23.5	18	11986987 (3), 17210142 (2), 14755440 (1), 15992519 (1)
bipolar disorder	15.9	2	15992519 (1), 17210142 (1)

GeneTests: MLC1

Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic Association Database (GAD): MLC1
Human Genome Epidemiology (HuGE) Navigator: MLC1 (2 documents)

Export disorders for MLC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MLC1 gene, integrated from 9 sources (see all 79):
(articles sorted by number of sources associating them with MLC1)

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Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)^{1, 2, 3} Nomura N.... Tabata S. (1994)
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (PubMed id 16652334)^{1, 2, 9} Ilja Boor P.K....Pronk J.C. (2006)
MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. (PubMed id 15992519)^{1, 4, 9} Verma R....Brahmachari S.K. (2005)
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. (PubMed id 11254442)^{1, 2, 9} Leegwater P.A.J.... van der Knapp M.S. (2001)
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. (PubMed id 11935341)^{1, 2, 9} Leegwater P.A.J....van der Knaap M.S. (2002)
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. (PubMed id 12189496)^{1, 2, 9} Ben-Zeev B....Pras E. (2002)
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations. (PubMed id 22328087)^{1, 2} Lanciotti A....Ambrosini E. (2012)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23209	HGNC: 17082	AceView: MLC1	Ensembl:ENSG00000100427	euGenes: HUgn23209
ECgene: MLC1	H-InvDB: MLC1

(According to HUGE)
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HUGE: KIAA0027

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MLC1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLC1

Intellectual Property for MLC1 gene
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