EFHC1
Gene Information
- Official Symbol: EFHC1
- Official Name: EF-hand domain containing 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 114327
- UniProt: Q5JVL4
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 16549
- Expression level (log2 read counts): 4.45