C17orf75
c17orf75: A Gene of Intrigue and Medical Significance
Description
c17orf75, officially known as chromosome 17 open reading frame 75, is a human gene located on the long arm of chromosome 17. It encodes a protein of unknown function that is widely expressed in various tissues and organs throughout the body.
Associated Diseases
Mutations in the c17orf75 gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability (ID)
- Autism spectrum disorder (ASD)
- Schizophrenia
- Microcephaly (a condition characterized by an abnormally small head)
- Epilepsy
The exact mechanisms by which c17orf75 mutations contribute to these disorders are not fully understood but research suggests that they may disrupt brain development and function.
Did you Know ?
Approximately 1 in 10,000 individuals is affected by a mutation in the c17orf75 gene. This makes it one of the more common genes associated with neurodevelopmental disorders.
Additional Information on Latest Research
Recent research has shed new light on the role of c17orf75 in neurodevelopment and disease:
- Synaptic Function: Studies have shown that c17orf75 protein is involved in regulating the function of synapses, the junctions between neurons that allow for communication. Mutations in the gene may impair synaptic plasticity, which is essential for learning and memory.
- Gene Regulation: c17orf75 has been found to interact with several other genes involved in gene regulation. Mutations in c17orf75 may disrupt these interactions, leading to abnormal gene expression patterns in the brain.
- Neuroinflammation: Some research indicates that c17orf75 mutations may trigger neuroinflammation, a chronic inflammatory response in the brain that has been linked to neurodevelopmental disorders.
