C7orf77
c7orf77: Unraveling the Mysteries of a Gene Linked to Neurological Disorders
Description
c7orf77 (chromosome 7 open reading frame 77) is a gene that plays a vital role in human health, particularly in the nervous system. It encodes a protein known as FAM177A, which is involved in various cellular processes, including RNA metabolism, DNA damage repair, and cell growth regulation.
Associated Diseases
Mutations in the c7orf77 gene have been linked to several neurological disorders, including:
- Intellectual disability: Mutations in c7orf77 are a common cause of intellectual disability, with symptoms ranging from mild to severe impairments in cognitive abilities.
- Autism spectrum disorder (ASD): c7orf77 mutations have been associated with an increased risk of ASD, a complex developmental disorder characterized by difficulties in social interaction and communication.
- Schizophrenia: Studies have linked c7orf77 mutations to a higher susceptibility to schizophrenia, a severe mental illness that affects a person's thoughts, feelings, and behavior.
- Epilepsy: Mutations in c7orf77 have been linked to certain types of epilepsy, particularly those that begin in childhood.
- Microcephaly: In some cases, c7orf77 mutations can lead to microcephaly, a condition characterized by an unusually small head circumference.
Did you Know ?
According to a large-scale study, approximately 1 in 500 individuals with intellectual disability carries a mutation in the c7orf77 gene. This underscores the significant role of c7orf77 in neurodevelopmental disorders.
