TTC21A

Description

The TTC21A gene, located on chromosome 12, encodes a protein known as tetratricopeptide repeat domain 21A. This protein plays a crucial role in various cellular processes, including protein trafficking, signal transduction, and cell growth. TTC21A's function involves interacting with other proteins, forming complex networks that govern these cellular activities. Mutations in TTC21A can disrupt these interactions, leading to a range of human diseases.

Associated Diseases

• Cerebellar ataxia, autosomal recessive 1 (SCAR1)
• Spastic paraplegia 58 (SPG58)
• Neurodevelopmental disorders with hypotonia and intellectual disability
• Congenital disorders of glycosylation type II

Did you know?

TTC21A is involved in the assembly of the COPI complex, a crucial component of protein trafficking within cells. Disruption of this complex can lead to the accumulation of misfolded proteins, contributing to the development of certain diseases.