KIAA1143
Description
The KIAA1143 (KIAA1143) is a protein-coding gene located on chromosome 3.
KIAA1143 is an uncharacterized human protein encoded by the KIAA1143 gene located on chromosome 3. It may play a role in cell growth mechanisms and the regulation and creation of the cytoskeleton. The mature mRNA transcript is 5079 base pairs long, and the KIAA1143 protein consists of 154 amino acids. Isoform 1 is the longest and most functional variant, while isoform 2 has a distinct C-terminus and is shorter. Both isoforms contain the DUF4604 domain of unknown function. KIAA1143 is predicted to be involved in cell structure and mobility by encoding heavy neurofilament subunits in neurons. Immunohistochemistry staining shows KIAA1143 presence in a cytokinetic bridge, indicating involvement in cellular cytokinesis.
KIAA1143 is also known as -.
Associated Diseases
- autosomal recessive spondylocostal dysostosis
- Prata-Liberal-Goncalves syndrome
- osteomesopyknosis
- primary basilar invagination
