NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1

NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1

• 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]

• Gene Synonyms (EPM2A, EPM2B, MALIN, bA204B7.2, E3 ubiquitin-protein ligase NHLRC1, NHL repeat containing 1, NHL repeat-containing protein 1, RING-type E3 ubiquitin transferase NHLRC1,)
• NCBI Gene ID: 378884
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q6VVB1
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

NHL repeat containing E3 ubiquitin protein ligase 1 interacts with:

• NHL repeat containing E3 ubiquitin protein ligase 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.