NHLRC1 wt Allele

Preferred Label : NHLRC1 wt Allele;

NCIt synonyms : bA204B7.2; EPM2B; MALIN; Epilepsy, Progressive Myoclonus Type 2B Gene; NHL Repeat Containing E3 Ubiquitin Protein Ligase 1 wt Allele; NHL Repeat Containing 1 Gene; MELF2;

NCIt definition : Human NHLRC1 wild-type allele is located in the vicinity of 6p22.3 and is approximately 395 kb in length. This allele, which encodes E3 ubiquitin-protein ligase NHLRC1 protein, is involved in the regulation of misfolded protein and polyglucosan clearance. Mutations in the gene are associated with myoclonic epilepsy of Lafora 2.;

GenBank Accession Number : AY324849;

Détails

Origin ID

C216119;

OMIM relation
- Nhl repeat-containing protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p22.3 [NCIt concept]
gene_is_element_in_pathway
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]
- Unfolded Protein Response [NCIt concept]

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