NHLRC1

NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.[5][6]

NHLRC1
Identifiers
AliasesNHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2, NHL repeat containing E3 ubiquitin protein ligase 1
External IDsOMIM: 608072 MGI: 2145264 HomoloGene: 18439 GeneCards: NHLRC1
Orthologs
SpeciesHumanMouse
Entrez

378884

105193

Ensembl

ENSG00000187566

ENSMUSG00000044231

UniProt

Q6VVB1

Q8BR37

RefSeq (mRNA)

NM_198586

NM_175340

RefSeq (protein)

NP_940988

NP_780549

Location (UCSC)Chr 6: 18.12 – 18.12 MbChr 13: 47.17 – 47.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000187566 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000044231 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW (Sep 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nat Genet. 35 (2): 125–7. doi:10.1038/ng1238. PMID 12958597. S2CID 32590557.
  6. "Entrez Gene: NHLRC1 NHL repeat containing 1".

Further reading

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