NHLRC1

GENE INFORMATION

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Gene name

NHLRC1 (HGNC Symbol)

Synonyms

bA204B7.2, EPM2B, malin

Description

NHL repeat containing E3 ubiquitin protein ligase 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

Chromosome

6

Cytoband

p22.3

Chromosome location (bp)

18121419 - 18122606

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187566 (version 78.38)

Entrez gene

378884

UniProt

Q6VVB1 (UniProt - Evidence at protein level)

neXtProt

NX_Q6VVB1

Antibodypedia

NHLRC1 antibodies
 

PROTEIN VIEW

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NHLRC1-001
 
 
 
 
 

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)

NHLRC1-001 ENSP00000345464
ENST00000340650
Q6VVB1
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