FAM134B
FAM134B: A Gene Linked to Neurological and Developmental Disorders
Description
FAM134B (Family with Sequence Similarity 134, Member B) is a gene located on chromosome 17q21.3. It encodes a protein with various functions, including vesicle trafficking, autophagy, and mitochondrial dynamics.
Associated Diseases
Mutations in the FAM134B gene have been linked to several neurological and developmental disorders, including:
- Spinocerebellar ataxia type 36 (SCA36): A rare neurodegenerative disorder characterized by progressive ataxia (difficulty with coordination and balance), muscle weakness, and speech difficulties.
- Intellectual disability: Severe intellectual disability, developmental delays, and speech impairments.
- Autism spectrum disorder (ASD): A group of neurodevelopmental disorders characterized by social and communication difficulties, and restricted and repetitive behaviors.
- Epilepsy: Seizures that can be generalized or focal.
Did you Know ?
- Mutations in FAM134B account for approximately 1-3% of all cases of spinocerebellar ataxia.
