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