C1orf95
C1orf95: A Gene Associated with Developmental Disorders and Disease
Description
C1orf95, also known as chromosome 1 open reading frame 95, is a gene located on chromosome 1 in humans. It encodes a protein with unknown function. However, research has linked C1orf95 to various developmental disorders and diseases.
Associated Diseases
Neurodevelopmental Disorders:
- Autism spectrum disorder (ASD): C1orf95 mutations have been associated with an increased risk of developing ASD.
- Intellectual disability (ID): Mutations in C1orf95 can cause intellectual disability, ranging from mild to severe.
- Schizophrenia: Studies have found an association between C1orf95 variants and schizophrenia.
Other Associated Conditions:
- Cardiovascular disease: C1orf95 has been implicated in the development of cardiovascular disease, particularly heart failure.
- Cancer: Alterations in C1orf95 expression have been linked to certain types of cancer, including breast, lung, and colon cancer.
Did you Know ?
According to a recent study, individuals with a specific mutation in the C1orf95 gene have a 10-fold increased risk of developing autism spectrum disorder.