| Symbol: Name: ID: |
EFHC1 EF-hand domain (C-terminal) containing 1 GFS:5521 |
| Gene name: | EFHC1 |
| Chromosome: | 6p12.3 |
| Previous Symbols: | |
| Previous Names: | |
| Aliases: | |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1919127 | Rat Genome Database ID: | RGD:1587365 |
| HGNC ID: | HGNC:16406 | RefSeq IDs: | NM_001172420 |
| Entrez Gene ID: | 114327 | Ensembl Gene ID: | ENSG00000096093 |
| VEGA IDs: | OTTHUMG00000014848 | UniProt ID: | Q5JVL4 |
| UCSC ID: | uc003pap.3 | OMIM ID: | 608815 |
| Pubmed: | |||
| CCDS IDs: | CCDSCCDS4942.1 | ||
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].
Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death.
Products for EFHC1 gene
| Catalog | Product Name | Application | Company |
| GFS:E05521 | EF-hand domain (C-terminal) containing 1; ELISA kit | ELISA | n/a |
| GFS:A05521 | EF-hand domain (C-terminal) containing 1; Anti | ANTIBODIES | n/a |
| GFS:P05521 | EF-hand domain (C-terminal) containing 1; Protien | Protien | n/a |
