EFHB
Description
The EFHB (EF-hand domain family member B) is a protein-coding gene located on chromosome 3.
EFHB acts as a cytosolic calcium sensor. It regulates the interaction between STIM1 and ORAI1, crucial for store-operated calcium entry (SOCE) and the subsequent translocation of NFAT from the cytoplasm to the nucleus. Additionally, EFHB is a microtubule inner protein (MIP) component of the dynein-decorated doublet microtubules (DMTs) within the cilia axoneme, essential for motile cilia beating.
EFHB is also known as CFAP21.
Associated Diseases
- psychiatric disorder
- Brugada syndrome
- familial atrial fibrillation
- sinoatrial node dysfunction and deafness
- Jervell and Lange-Nielsen syndrome 1
- cholesterol-ester transfer protein deficiency
- familial sick sinus syndrome
- hypertriglyceridemia 2
- Jervell and Lange-Nielsen syndrome 2
