SPECC1L : sperm antigen with calponin homology and coiled-coil domains 1 like
Description
The SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like) is a protein-coding gene located on chromosome 22.
The SPECC1L gene provides instructions for making a protein called cytospin-A. This protein helps maintain the cell's shape by stabilizing microtubules, which are essential for various cell processes, including cell migration. During development, cytospin-A is particularly important for the migration of neural crest cells, which give rise to structures like the forehead, nasal bridge, and lower jaw.
The SPECC1L gene plays a crucial role in cell division (cytokinesis) and proper spindle formation. It is also involved in maintaining the structural integrity of the cell by influencing the organization of the actin cytoskeleton and stabilizing microtubules. These functions are essential for cell adhesion and migration, processes that are critical for proper tissue development and function.
SPECC1L is also known as CYTSA, GBBB2, OBLFC1, TBHS, TBHS1.
Associated Diseases
- Facial clefting, oblique, 1
- SPECC1L-related hypertelorism syndrome
- Teebi hypertelorism syndrome 1
- Opitz G/BBB syndrome
