SPEF1


Description

The SPEF1 (sperm flagellar 1) is a protein-coding gene located on chromosome 20.

Sperm flagellar protein 1 is a protein that in humans is encoded by the SPEF1 gene.

SPEF1 is a microtubule-associated protein that plays a role in microtubule stabilization and bundling. It is involved in the establishment and stabilization of microtubules during cell migration, particularly during radial intercalation. SPEF1 is essential for ciliary central apparatus formation, where it binds to microtubules and facilitates the bundling of microtubules. It also contributes to the localization of HYDIN and SPAG6 in ependymal cilia. Additionally, SPEF1 interacts with actin in intestinal epithelial cells (IECs), promoting their survival and contributing to the formation of filopodia and lamellipodia in migrating IECs. SPEF1 is also involved in regulating the planar cell polarity signaling pathway and asymmetric microtubule accumulation in ciliated epithelia.

SPEF1 is also known as C20orf28, CLAMP, SPEF1A.

Associated Diseases



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