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