EF-hand domain-containing protein 1 (EFHC1)

Function

• enhances Ca+2 influx through CACNA1E (putative) via C-terminus of CACNA1E
• stimulates programmed cell death (putative)

Structure

• contains 1 EF-hand domain

Alternative splicing

named isoforms=2

Expression

• widely expressed
• not detected in lymphocytes

Pathology

• defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1

More general terms

• Ca+2 binding protein

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/254770
• OMIM: https://mirror.omim.org/entry/606904
• OMIM: https://mirror.omim.org/entry/608815
• UniProt: http://www.uniprot.org/uniprot/Q5JVL4.html