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EFHC1 EF-hand domain containing 1

Also known as: EJM1; dJ304B14.2

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. [provided by RefSeq, Feb 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Epilepsy juvenile absence
MedGen: C0014553OMIM: 607631GeneReviews: Not available
See labs
Juvenile myoclonic epilepsy
MedGen: C1850778OMIM: 254770GeneReviews: Not available
See labs

Genomic context

Location:
6p12.2
Sequence:
Chromosome: 6; NC_000006.12 (52420196..52495785)
Total number of exons:
12

Links

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