EFHC1 EF-hand domain containing 1

Gene ID: 114327, updated on 19-Sep-2024
Gene type: protein coding
Also known as: EJM1; POC9; RIB72; 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

Description	Tests
Epilepsy, juvenile absence, susceptibility to, 1 MedGen: C2750892OMIM: 607631GeneReviews: Not available	See labs
Myoclonic epilepsy, juvenile, susceptibility to, 1 MedGen: C1850778OMIM: 254770GeneReviews: Not available	See labs

Genomic context

Location:: 6p12.2

Sequence:: Chromosome: 6; NC_000006.12 (52420342..52497198)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for EFHC1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
EFHC1 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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