LOC650293
Loc650293: An Intriguing Gene Linked to Neurological Disorders
Description
Loc650293, commonly referred to as C15orf68, is a gene located on chromosome 15 in humans. It encodes a protein known as chromosome 15 open reading frame 68 (C15orf68), which plays a significant role in cellular processes.
C15orf68 is a multi-functional protein involved in various biological pathways, including DNA repair, RNA metabolism, and cell cycle regulation. It is particularly abundant in the central nervous system (CNS), where it contributes to the development and maintenance of neuronal function.
Associated Diseases
Disruptions in the loc650293 gene have been linked to a range of neurological disorders, including:
- Microcephaly: A condition where the head is abnormally small, often accompanied by intellectual disability.
- Intellectual disability: A generalized impairment of intellectual functioning, resulting in difficulties with learning, problem-solving, and social adaptation.
- Autism spectrum disorder (ASD): A complex developmental disorder characterized by social communication deficits, repetitive behaviors, and restricted interests.
- Schizophrenia: A severe mental illness that affects a person's thinking, emotions, and behavior.
Did you Know ?
Approximately 1 in every 50,000 individuals is estimated to carry a mutation in the loc650293 gene. While this may seem like a low occurrence, it highlights the potential impact of rare genetic variants in contributing to neurological disorders.
