NCBI Description of EFHC1
|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.|
Community Annotation of EFHC1 Add / Edit EFHC1: Annotations
No community annotations yet for EFHC1.
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