EFHC1
Sign in to saveAlso 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.
Gene data
EFHC1- Name
- EF-hand domain containing 1
- Type
- protein-coding
- Aliases
- EJM1, POC9, RIB72, dJ304B14.2
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
Gene · Ensembl
EF-hand domain containing 1
- Symbol
- EFHC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:52,362,123-52,529,886
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 10003
- exact match
- identifiers.org/ncbigene/114327
- genomic end
- 52387892
- genomic start
- 52285106
- cytogenetic location
- 6p12.2
Sources (4)
via Wikidata · CC0
~1 min read
Article
2 sectionsContents
- References
- Further reading
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==