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NHLRC1 NHL repeat containing 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_198586 Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

Related Services

Gene Symbol NHLRC1
Entrez Gene ID 378884
Full Name NHL repeat containing 1
Synonyms EPM2A, EPM2B, MALIN, MGC119262, MGC119264, MGC119265, bA204B7.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p22.3

Summary 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].
Disorder

MIM: 608072

Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)

mRNA Protein Product Sequence Price Select
NM_198586, 40255282 NP_940988, 40255283 E3 ubiquitin-protein ligase NHLRC1 ORF Sequence $400.00
KEGG
hsa04120Ubiquitin mediated proteolysis
Homo sapiens (human)NHLRC1NP_940988.2
Pan troglodytes (chimpanzee)NHLRC1XP_001170828.1
Macaca mulatta (Rhesus monkey)NHLRC1XP_001097330.1
Canis lupus familiaris (dog)NHLRC1NP_001006650.1
Bos taurus (cattle)NHLRC1XP_002697596.1
Mus musculus (house mouse)Nhlrc1NP_780549.1
Rattus norvegicus (Norway rat)Nhlrc1NP_954706.1
Gallus gallus (chicken)NHLRC1XP_426034.2
GeneCards NHLRC1
UniProt Q6VVB1
MIM 608072
Ensembl ENSG00000187566
HGNC 21576
HPRD 06995

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
E3 ubiquitin-protein ligase NHLRC1
Names
E3 ubiquitin-protein ligase NHLRC1
NHL repeat-containing protein 1

Interactant



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