EFHC1

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

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RefSeq (protein)

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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




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