ACOX3
Ataxia-Coxsackie Virus Receptor 3 Gene (ACOX3)
Description
The ataxia-coxsackie virus receptor 3 gene (ACOX3) encodes a protein that plays a crucial role in the development and function of the central nervous system. It is located on chromosome 12q13.13 and consists of 14 exons. The ACOX3 protein is a type II transmembrane protein that contains a large extracellular domain, a single transmembrane helix, and a short cytoplasmic tail.
Associated Diseases
Mutations in the ACOX3 gene have been linked to several neurodegenerative disorders, including:
- Spinocerebellar Ataxia Type 25 (SCA25): SCA25 is a rare inherited disorder characterized by progressive degeneration of the cerebellum and brainstem. It typically manifests in adulthood with symptoms such as difficulty walking, speech problems, and tremors.
- Intellectual Disability with Microcephaly: Some mutations in ACOX3 have been associated with intellectual disability and microcephaly (small head size).
- Infantile-Onset Spinocerebellar Ataxia with Epilepsy: This rare disorder presents in infancy with severe motor impairment and epilepsy. It often leads to significant disability and early death.
Did you Know ?
According to a study published in the "American Journal of Human Genetics," mutations in ACOX3 account for approximately 5% of cases of familial spinocerebellar ataxia.
