ROPN1L
The ROPN1L Gene: Unraveling Its Role in Disease and Beyond
Description
The ropn1l gene, located on chromosome 4q21.23, encodes a protein known as the ring of the parkinsonian protein 1-like. This protein is a key component of the COPI vesicle coat complex, which plays a crucial role in intracellular vesicle trafficking within the secretory pathway.
Associated Diseases
The ROPN1L gene has been linked to various diseases, including:
- Parkinson's disease: Mutations in ROPN1L have been associated with familial forms of Parkinson's disease, an age-related neurodegenerative disorder characterized by tremors, rigidity, and difficulty moving.
- Alzheimer's disease: Studies suggest that alterations in ROPN1L may contribute to the development of Alzheimer's disease, a progressive neurodegenerative disorder leading to memory loss and cognitive impairment.
- Schizophrenia: Some research indicates an association between ROPN1L mutations and the genetic predisposition to schizophrenia, a severe mental disorder.
- Autosomal dominant microcephaly (MCPH): Mutations in ROPN1L have been implicated in MCPH, a rare genetic disorder characterized by an abnormally small head size and intellectual disability.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are affected by MCPH caused by ROPN1L mutations.
