C11orf31
C11orf31: An Enigmatic Gene Linked to Neurological Diseases and Developmental Disorders
Description
C11orf31 is a human gene located on chromosome 11. It encodes a protein of unknown function, known as C11orf31 protein. This protein is highly conserved across species, suggesting an important role in cellular processes.
Associated Diseases
Recent research has linked mutations in the C11orf31 gene to several neurological diseases and developmental disorders, including:
- Intellectual disability
- Autism spectrum disorder
- Epilepsy
- Schizophrenia
- Alzheimer's disease
It is hypothesized that these mutations disrupt the normal function of C11orf31 protein, leading to imbalances in cellular processes and subsequent developmental or disease outcomes.
Did you Know ?
Studies indicate that variations in the C11orf31 gene are relatively common, affecting approximately 1% of the human population. However, the phenotypic expression of these variations can vary widely, with some individuals showing no noticeable symptoms while others experience significant developmental or neurological problems.
