C1orf27
c1orf27: Unraveling the Enigma of a Gene Associated with Neurodevelopmental Disorders
Description
The c1orf27 gene, located on the human chromosome 1, holds a unique position in the realm of genetics. It encodes a protein known as chromosome 1 open reading frame 27, or C1orf27, which plays a crucial role in various cellular processes. C1orf27 is highly conserved across different species, suggesting its fundamental importance in biological systems. Despite its significance, the precise molecular mechanisms underlying its functions remain an intriguing enigma.
Associated Diseases
Mutations in the c1orf27 gene have been linked to a spectrum of neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and speech delay. Studies have identified specific mutations that disrupt the normal functioning of C1orf27, leading to neurological impairments. However, it's important to note that not all individuals with these disorders have c1orf27 mutations, indicating the complexity of neurodevelopmental conditions.
Did you Know ?
Approximately 1% of individuals with ASD have been found to carry mutations in the c1orf27 gene, highlighting its significant contribution to the etiology of this disorder. This statistic underscores the importance of investigating the role of c1orf27 in neurodevelopment and its potential implications for therapeutic interventions.
