ZMYM6NB
The zmym6nb Gene: A Gateway to Understanding Neurological Disorders
Description
The zmym6nb gene, located on chromosome 15q21.3, encodes a protein named zinc metallopeptidase 6 nuclear binding. This protein plays a crucial role in cellular processes, particularly in the nervous system. It is involved in proteolysis, the breakdown of proteins, and is essential for the proper functioning of neurons.
Associated Diseases
Mutations in the zmym6nb gene have been linked to several neurological disorders, including:
- Intellectual Disability (ID): Mutations in zmym6nb can cause varying degrees of ID, ranging from mild to severe.
- Epilepsy: Zmym6nb mutations have been associated with different types of epilepsy, including focal seizures and generalized seizures.
- Autism Spectrum Disorder (ASD): Studies have shown that mutations in zmym6nb increase the risk of developing ASD.
- Schizophrenia: Zmym6nb has been implicated in the genetic susceptibility to schizophrenia.
- Alzheimer's Disease (AD): Research suggests that reduced expression of zmym6nb may contribute to the development of AD.
Did you Know ?
Approximately 1 in 50,000 individuals are affected by mutations in the zmym6nb gene. These mutations can occur spontaneously or be inherited from parents.
