REEP2
Description
The REEP2 (receptor accessory protein 2) is a protein-coding gene located on chromosome 5.
REEP2 is a protein encoded by the REEP2 gene in humans. It belongs to a family of proteins known to enhance receptor expression, potentially including G protein-coupled receptors. REEP2's expression is limited to specific human tissues. Mutations in the REEP2 gene have been linked to hereditary spastic paraplegia, a condition characterized by progressive leg muscle weakness and stiffness.
REEP2 is also known as C5orf19, SGC32445, SPG72, SPG72A, SPG72B, Yip2d.
Associated Diseases
- Autosomal spastic paraplegia type 72
- Spastic paraplegia 72, autosomal recessive
- Spastic paraplegia 72B, autosomal recessive
