C1orf177
c1orf177: Unraveling the Mystery of a Gene Linked to Brain Development and Disease
Description
c1orf177 (chromosome 1 open reading frame 177) is a gene located on chromosome 1 in humans. It encodes a protein of unknown function that is highly expressed in the brain during early development. Researchers believe that c1orf177 plays a crucial role in neuronal growth and synaptic plasticity, the ability of neurons to form and strengthen connections with each other.
Associated Diseases
Mutations in the c1orf177 gene have been identified in several neurological diseases, including:
- Intellectual Disability: c1orf177 mutations are associated with intellectual disability, often accompanied by speech and language difficulties and developmental delays.
- Microcephaly: This condition is characterized by an abnormally small brain size. c1orf177 mutations have been found in individuals with microcephaly, suggesting a role for the gene in brain growth.
- Autism Spectrum Disorder: While the exact link is still being investigated, studies have found an association between c1orf177 mutations and autism spectrum disorder.
Did you Know ?
Approximately 1 in 1,000 individuals are estimated to carry a c1orf177 mutation. This highlights the potential impact of this gene on human health, particularly in neurodevelopmental disorders.
