EF-hand domain-containing protein 1 (EFHC1)

Function: 1) enhances Ca⁺² influx through CACNA1E (putative) via C-terminus of CACNA1E 2) stimulates programmed cell death (putative) Structure: - contains 1 EF-hand domain Alternative splicing: named isoforms=2 Expression: 1) widely expressed 2) not detected in lymphocytes Pathology: - defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1

Related

EF-hand domain-containing protein D1; EF-hand domain-containing protein 1; Swiprosin-2 (EFHD1 SWS2 PP3051) peflin (PEF protein with a long N-terminal hydrophobic domain, penta-EF hand domain-containing protein 1, PEF1, ABP32, UNQ1845/PRO3573) zinc finger ZZ-type & EF-hand domain-containing protein 1 (ZZEF1, KIAA0399)

Properties

SIZE: MW = 74 kD entity length = 640 aa MOTIF: EF hand SITE: 574-609

Database Correlations

OMIM correlations MORBIDMAP 608815 UniProt Q5JVL4 PFAM correlations

References

UniProt :accession Q5JVL4