SPTBN2
Description
The SPTBN2 (spectrin beta, non-erythrocytic 2) is a protein-coding gene located on chromosome 11.
SPTBN2 is a human gene responsible for producing the spectrin beta chain, brain 2 protein. Mutations in this gene are linked to Spinocerebellar ataxia type 5, a neurodegenerative disorder.
This protein likely plays a crucial role in maintaining the structure and stability of the neuronal membrane skeleton.
SPTBN2 is also known as GTRAP41, SCA5, SCAR14.
Associated Diseases
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spinocerebellar ataxia, autosomal recessive 14
- Spinocerebellar ataxia 5
- Spinocerebellar ataxia type 5
