FAM160B1
FAM160B1: A Gene with Implications for Neurological Disorders
Description:
FAM160B1 is a gene located on chromosome 11q14.1. It encodes a protein called the family with sequence similarity 160, member B1. This protein is involved in regulating cell signaling and trafficking within neurons, the fundamental units of the nervous system.
Associated Diseases:
Mutations in the FAM160B1 gene have been linked to several neurological disorders, including:
- Spinocerebellar ataxia type 28 (SCA28): A rare inherited disorder characterized by progressive degeneration of the cerebellum and spinal cord, leading to difficulty with coordination, balance, and fine motor skills.
- Epilepsy: FAM160B1 mutations have been associated with various types of epilepsy, including generalized tonic-clonic seizures, myoclonic seizures, and absence seizures.
- Intellectual disability: Some individuals with FAM160B1 mutations may exhibit intellectual disabilities, ranging from mild to severe.
- Autism spectrum disorder (ASD): FAM160B1 has been implicated as a potential risk factor for developing ASD, although its exact role is still being studied.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in FAM160B1 are estimated to cause approximately 1% of cases of spinocerebellar ataxia and 0.5% of cases of generalized epilepsy.
