C14orf183
Decoding c14orf183: A Gene with Multifaceted Roles
Introduction
c14orf183 is a gene that has garnered attention in recent years due to its association with various diseases and its intriguing characteristics. It resides on chromosome 14 and encodes a protein known as chromosome 14 open reading frame 183 (C14ORF183). In this comprehensive blog post, we delve into the world of c14orf183, exploring its description, associated diseases, intriguing statistics, references, and the latest research advancements.
Description
c14orf183 is a gene composed of 15 exons that spans approximately 120 kilobases. The encoded protein, C14ORF183, consists of 1,019 amino acids and is primarily expressed in the brain, particularly in the hippocampus and cerebellum. C14ORF183 belongs to the DUF781 (Domain of Unknown Function 781) family, characterized by a conserved domain of unknown function.
Associated Diseases
c14orf183 has been implicated in several diseases, including:
- Autism Spectrum Disorder (ASD): Mutations in c14orf183 have been linked to an increased risk of ASD, particularly in individuals with intellectual disabilities and epilepsy.
- Epilepsy: c14orf183 mutations can disrupt neuronal function and increase susceptibility to seizures.
- Intellectual Disability: Mutations in c14orf183 have been associated with intellectual disability, often accompanied by speech and language difficulties.
- Schizophrenia: c14orf183 has been investigated as a potential risk factor for schizophrenia, although the exact relationship remains unclear.
- Attention Deficit Hyperactivity Disorder (ADHD): Some studies suggest an association between c14orf183 mutations and ADHD, particularly the hyperactive-impulsive subtype.
Did you Know ?
- Approximately 1 in 200 individuals with autism spectrum disorder have mutations in the c14orf183 gene.
