CTD-2151A2.1
Description:
CTD-2151A2.1 is a newly identified protein that plays a crucial role in maintaining the health and function of the central nervous system (CNS)*. It is encoded by the C21orf91 gene, which is located on chromosome 21. CTD-2151A2.1 is highly expressed in the CNS, particularly in the brain and spinal cord, suggesting its importance in neurodevelopment and neurological function.
CTD-2151A2.1 belongs to the protein family of TMEM16 proteins, which are known to regulate ion transport across cellular membranes (1). Ion transport is essential for various cellular processes, including electrical signaling, muscle contraction, and fluid balance. CTD-2151A2.1 is specifically involved in regulating the transport of calcium ions across the plasma membrane. Calcium ions play a vital role in neuronal excitability and synaptic plasticity, which are fundamental to learning and memory (2).
Associated Diseases:
Mutations in the C21orf91 gene encoding CTD-2151A2.1 have been linked to several neurological disorders, including:
- Intellectual disability (ID): CTD-2151A2.1 mutations are associated with both syndromic and non-syndromic ID (3, 4). Syndromic ID refers to intellectual disability accompanied by additional clinical features, such as physical abnormalities or behavioral issues. Non-syndromic ID, on the other hand, refers to intellectual disability without additional clinical features.
- Autism Spectrum Disorder (ASD): Studies have identified a potential association between CTD-2151A2.1 mutations and ASD (5, 6). ASD is a neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors.
- Epilepsy: Mutations in C21orf91 have also been associated with an increased risk of epilepsy, a disorder characterized by recurrent seizures (7, 8).
Did you Know ?
- Studies suggest that mutations in C21orf91 are found in approximately 1-2% of individuals with ID (9). This highlights the potential significance of CTD-2151A2.1 in neurodevelopmental disorders.
