EFHC2
Description
The EFHC2 (EF-hand domain containing 2) is a protein-coding gene located on chromosome X.
The EFHC2 gene, located on the X chromosome, encodes a protein with three DM10 domains and three calcium-binding EF-hand motifs. This 749-amino acid protein is predicted to reside in the cytoplasm. EFHC2 is one of a few genes that may escape X inactivation. A single nucleotide polymorphism (SNP) in the gene has been linked to harm avoidance.
EFHC2, a Microtubule Inner Protein (MIP), plays a crucial role in the structure and function of cilia. It is found within the dynein-decorated doublet microtubules (DMTs) of the cilia axoneme, where it is essential for the coordinated beating of motile cilia.
EFHC2 is also known as MRX74, dJ1158H2.1.
Associated Diseases
- juvenile myoclonic epilepsy
- Turner syndrome
- Norrie disease
- megaloblastic anemia
- X-linked intellectual disability
- Alzheimer disease
