EF-hand domain containing 2

MRX74

FLJ22843

mental retardation, X-linked 74

EF-hand domain (C-terminal) containing 2

EF-hand domain-containing family member C2

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. [provided by RefSeq, Aug 2011].

Varaico: Literature-Extracted Genetic Variants

EFHC2

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Previous Symbol