Also known as EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
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. [provided by RefSeq, Feb 2010].
via MyGene.info
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
Not all variants of EFHC1 are pathogenic. ==References==
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).