EFHC1

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EFHC1
Identifiers
Aliases EFHC1, EJM1, dJ304B14.2, EF-hand domain containing 1
External IDs MGI: 1919127 HomoloGene: 10003 GeneCards: EFHC1
RNA expression pattern
PBB GE EFHC1 219833 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001172420
NM_018100

NM_027974

RefSeq (protein)

NP_001165891
NP_060570
NP_001165891.1
NP_060570.2

NP_082250.1
NP_082250

Location (UCSC) Chr 6: 52.36 – 52.53 Mb Chr 1: 20.95 – 20.99 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.[3]


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. [4]

References[edit]

Further reading[edit]