EFHC1 : EF-hand domain containing 1

Description

The EFHC1 (EF-hand domain containing 1) is a protein-coding gene located on chromosome 6.

The EFHC1 gene provides instructions for making a protein called EF-hand domain containing protein 1 (EFHC1). The EFHC1 protein interacts with another protein that acts as a calcium channel, allowing positively charged calcium atoms (calcium ions) to cross the cell membrane. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The role of the EFHC1 protein is not well understood, although it is thought to help regulate the balance of calcium ions inside the cell (calcium homeostasis). Studies also show that the EFHC1 protein may stimulate the self-destruction of cells (apoptosis).

EFHC1 is a microtubule-associated protein that plays a crucial role in cell division and neuronal migration during brain development. It is essential for organizing the mitotic spindle during cell division (PubMed:19734894, PubMed:28370826). Additionally, EFHC1 is involved in both radial and tangential migration of neurons, potentially acting as a regulator of cell shape and process formation during this process (PubMed:22926142). Furthermore, EFHC1 may enhance calcium influx through CACNA1E, leading to programmed cell death (PubMed:15258581, PubMed:19734894, PubMed:22926142, PubMed:28370826). EFHC1 is also a microtubule inner protein (MIP) found in the dynein-decorated doublet microtubules (DMTs) of cilia axonemes, which are essential for motile cilia beating (PubMed:36191189).

EFHC1 is also known as EJM1, POC9, RIB72, dJ304B14.2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing