MLC1

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 VIEW

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MLC1-001
 
MLC1-002
 
MLC1-005
 
 
 
 
 

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
Show all »
Show » 223 24.3 No 5