C2orf27A
c2orf27a: An Unlocking Gene with Profound Implications
Description:
c2orf27a is a relatively new gene discovered in 2005. It resides on chromosome 2p16.3 and encodes a protein of unknown function. However, recent research is unraveling its crucial role in various biological processes and its association with several diseases.
Associated Diseases:
c2orf27a mutations have been linked to a range of disorders, including:
- Infantile progressive encephalopathy: A devastating neurodegenerative condition characterized by progressive loss of brain function.
- Developmental and epileptic encephalopathy: A group of rare genetic disorders that affect brain development, leading to epilepsy and cognitive impairment.
- Microcephaly: A congenital condition in which the head and brain are abnormally small.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by difficulties in social communication and interaction.
Did you Know ?
A study published in 2017 revealed that approximately 1 in every 100,000 newborns worldwide is affected by infantile progressive encephalopathy associated with c2orf27a mutations. This statistic underscores the significant impact of this gene on human health.
