Gene: EFHC1

Alternate names for this Gene: EJM1|POC9|RIB72|dJ304B14.2

Gene Summary: This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.2

Description of this Gene: EF-hand domain containing 1

Type of Gene: protein-coding

rs9357733 in EFHC1 gene and Childhood asthma PMID 26542096 2015 Meta-analysis identifies seven susceptibility loci involved in the atopic march.

rs9357733 in EFHC1 gene and Dermatitis, Atopic PMID 26542096 2015 Meta-analysis identifies seven susceptibility loci involved in the atopic march.

rs6919266 in EFHC1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137852776 in EFHC1 gene and Juvenile Myoclonic Epilepsy PMID 15258581 2004 Mutations in EFHC1 cause juvenile myoclonic epilepsy.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 17634063 2007 Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

PMID 28370826 2017 Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.

PMID 22727576 2012 Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

PMID 22926142 2012 Here, we show that JME mutations, including F229L, do not alter the ability of EFHC1 to colocalize with the centrosome and the mitotic spindle, but act in a dominant-negative manner to impair mitotic spindle organization.

PMID 22690745 2012 The mutation, Phe229Leu in the EFHC1 gene was previously shown, in a carrier state, to be associated with juvenile myoclonic epilepsy.

PMID 22926142 2012 Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

PMID 22690745 2012 Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

rs56032325 in EFHC1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs719395 in EFHC1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.