Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)

Stable Identifier
Reaction [transition]
Homo sapiens
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NHLRC1 (malin) mediates the ubiquitination of EPM2A (laforin) and PPP1R3C (PTG) associated with cytosolic liver- and muscle-form glycogen granules (Gentry et al. 2005). Defects in NHLRC1 (malin) are the cause of the second commonest form of Lafora disease (Roma-Mateo et al. 2012). The two missense mutant forms of NHLRC1 (malin) annotated here are examples of the disease-associated NHLRC1 alleles that have been described (Chan et al. 2003).

Literature References
PubMed ID Title Journal Year
15930137 Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

Gentry, MS, Worby, CA, Dixon, JE

Proc. Natl. Acad. Sci. U.S.A. 2005
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy

Scherer, SW, Jovic, NJ, Chan, EM, Avanzini, G, Ackerley, CA, Delgado-Escueta, AV, Zhao, X, Young, EJ, Andermann, E, Bohlega, S, Rouleau, GA, Elia, M, Christopoulos, CC, Ianzano, L, Munteanu, I, Minassian, BA

Nat. Genet. 2003
22815132 Deciphering the role of malin in the lafora progressive myoclonus epilepsy

Romá-Mateo, C, Gentry, MS, Sanz, P

IUBMB Life 2012
Catalyst Activity

ubiquitin-protein transferase activity of NHLRC1 mutants [cytosol]

Normal reaction
Functional status

Loss of function of NHLRC1 mutants [cytosol]

Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
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