Also known as EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.
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].
via MyGene.info
~1 min read
NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.
==See also== NHL repeat
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).