RecName: Full=E3 ubiquitin-protein ligase NHLRC1; AltName: Full=Malin; - Protein

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Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease. [Clin Neurol Neurosurg. 2022]
Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease.
Tang X, Li X, Chen Y, Wu D. Clin Neurol Neurosurg. 2022 Jul; 218:107255. Epub 2022 Apr 25.
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. [J Hum Genet. 2021]
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G, Ozdemir O, Tutkavul K, Dervent A, Ayta S, Ozkara C, Salman B, Yucesan E, Kesim Y, Susgun S, et al. J Hum Genet. 2021 Dec; 66(12):1145-1151. Epub 2021 Jun 11.
Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. [Pediatr Neurol. 2011]
Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.
Brackmann FA, Kiefer A, Agaimy A, Gencik M, Trollmann R. Pediatr Neurol. 2011 Jun; 44(6):475-7.

RefSeq genomic sequence
See the genomic reference sequence for the NHLRC1 gene (NG_016750.1).
RefSeq protein
See the reference protein sequence for E3 ubiquitin-protein ligase NHLRC1 (NP_940988.2).

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Q6VVB1 [Domain Mapping of Disease Mut...]
Q6VVB1
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
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Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=E3 ubiquitin-protein ligase NHLRC1; AltName: Full=Malin; AltName: ...
RecName: Full=E3 ubiquitin-protein ligase NHLRC1; AltName: Full=Malin; AltName: Full=NHL repeat-containing protein 1; AltName: Full=RING-type E3 ubiquitin transferase NHLRC1
gi|50400890|sp|Q6VVB1.2|NHLC1_HUMAN

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