C11orf30
C11orf30: An Emerging Gene in Human Biology and Disease
Description
C11orf30, also known as chromosome 11 open reading frame 30, is a gene located on chromosome 11 in humans. It encodes a protein of unknown function that is primarily expressed in the brain and spinal cord. Recent research has shed light on the potential role of C11orf30 in various biological processes and its association with several human diseases.
Associated Diseases
Mutations in C11orf30 have been linked to several neurodegenerative and developmental disorders, including:
- Amyotrophic Lateral Sclerosis (ALS): Studies have found that mutations in C11orf30 are associated with an increased risk of developing ALS, a fatal neurodegenerative disease that affects motor neurons.
- Frontotemporal Dementia (FTD): Some mutations in C11orf30 have been identified in individuals with FTD, a group of brain disorders that cause progressive degeneration of the frontal and temporal lobes.
- Autism Spectrum Disorder (ASD): Rare variants in C11orf30 have been reported in individuals diagnosed with ASD, suggesting a possible connection between the gene and autism.
- Intellectual Disability: Mutations in C11orf30 have been identified in a small number of individuals with intellectual disability, although the exact nature of the relationship is still being investigated.
Did you Know ?
Approximately 5-10% of familial ALS cases (those with a family history of the disease) have been linked to mutations in C11orf30, making it one of the most common genetic risk factors for this devastating disorder.
