Recombinant Human EF-hand domain-containing protein 1 (EFHC1)

Uniprot Id

Q5JVL4

Target Species

Human

Target Name

EFHC1

Target Full Name

EF-hand domain-containing protein 1

Target Function

Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death.

Target Involvement

Juvenile myoclonic epilepsy 1 (EJM1); Juvenile absence epilepsy 1 (JAE1)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole.

Target Tissue Specificity

Widely expressed. Not detected in lymphocytes.

Target Synonyms

EF hand domain (C terminal) containing 1 ; EF hand domain containing protein 1; EF-hand domain-containing protein 1; Efhc1; EFHC1_HUMAN; EJA1; EJM1; FLJ10466; FLJ37290; JAE; Myoclonin 1; Myoclonin-1

Target Background

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.