EFHC1: Difference between revisions

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'''EF-hand domain-containing protein 1''' is a [[protein]] that in humans is encoded by the ''EFHC1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327| accessdate = }}</ref>
'''EF-hand domain-containing protein 1''' is a [[protein]] that in humans is encoded by the ''EFHC1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=114327| accessdate = }}</ref>

Latest revision as of 15:12, 13 February 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.[1]


EFHC1 variants initially thought to be pathogenic in epilepsy were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene. [2]

References

  1. "Entrez Gene: EFHC1 EF-hand domain (C-terminal) containing 1".
  2. Subaran RL, Conte JM, Stewart WC, Greenberg DA (2015). "Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry". Epilepsia. 56 (2): 188–94. doi:10.1111/epi.12864. PMC 4354299. PMID 25489633.

Further reading