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EFHC2 encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. Additionally we are shipping EFHC2 Antibodies (36) and many more products for this protein.
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Our observations provide new information on the genotype-phenotype relations of MAOA (show MAOA Proteins)/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB (show MAOB Proteins)) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy.
In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism in EFHC2 gene and IGE presence.
EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males
An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy.
EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism.
This study found that the association between a variant in EFHC2 with the processing of fear and social threat and harm reduction.
This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome.
EF-hand domain-containing family member C2