LOC728613
Loc728613: An Overview of a Genetic Mutation and Its Impact on Health
Description
Loc728613 is a specific genetic mutation located on chromosome 22 in humans. It involves a change in the DNA sequence of the gene encoding the protein FAM134B. This mutation results in an alteration in the structure and function of the FAM134B protein, which plays a crucial role in various cellular processes.
Associated Diseases
Research has associated the loc728613 mutation with several medical conditions, including:
- Multiple sclerosis (MS): MS is an autoimmune disorder affecting the central nervous system. The loc728613 mutation has been identified as a risk factor for developing MS, particularly in individuals of European descent.
- Hirschsprung's disease: This is a congenital condition characterized by the absence or underdeveloped nerves in certain parts of the large intestine. The loc728613 mutation has been linked to an increased risk of Hirschsprung's disease.
- Schizophrenia: Schizophrenia is a severe mental health disorder. The loc728613 mutation has been associated with a slightly increased risk of schizophrenia, although further research is needed to determine the exact role it plays.
Did you Know ?
According to a study published in the journal Nature Genetics, individuals carrying the loc728613 mutation are approximately twice as likely to develop multiple sclerosis as those who do not carry the mutation. This highlights the significant role of genetics in MS susceptibility.
