||ORF Nucleotide Sequence (Length: 1188bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||E3 ubiquitin-protein ligase NHLRC1
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BK001510.1.
This sequence is a reference standard in the RefSeqGene project.
On Dec 20, 2003 this sequence version replaced gi:38348439.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: BK001510.1 [ECO:0000332]
COMPLETENESS: complete on the 3' end.