MLC1

GENERAL INFORMATION

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Gene name

MLC1

Gene description

Megalencephalic leukoencephalopathy with subcortical cysts 1

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (bone marrow, cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression mainly in the CNS, adrenal gland and kidney.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA003040 , HPA067533
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Hippocampus

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (bone marrow, cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



GENE INFORMATION

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Gene name

MLC1 (HGNC Symbol)

Synonyms

KIAA0027, LVM, MLC, VL

Description

Megalencephalic leukoencephalopathy with subcortical cysts 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

22

Cytoband

q13.33

Chromosome location (bp)

50059391 - 50085902

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100427 (version 78.38)

Entrez gene

23209

UniProt

Q15049 (UniProt - Evidence at protein level)

neXtProt

NX_Q15049

Antibodypedia

MLC1 antibodies


PROTEIN BROWSER

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ENST00000311597
 
ENST00000395876
 
ENST00000442311
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MLC1-001 ENSP00000310375
ENST00000311597
Q15049
Show all »
Show » Show » 377 41.1 No 7
MLC1-002 ENSP00000379216
ENST00000395876
Q15049
Show all »
Show » Show » 377 41.1 No 7
MLC1-005 ENSP00000401385
ENST00000442311
A6PVC3
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Show » 223 24.3 No 5