RHBDL3
Description
The RHBDL3 (rhomboid like 3) is a protein-coding gene located on chromosome 17.
RHBDL3 is thought to participate in regulated intramembrane proteolysis (RIP), a process where proteins are cleaved within the cell membrane. This cleavage releases functional pieces of the protein, known as polypeptides, from their membrane anchors, allowing them to perform their specific roles.
RHBDL3 is also known as RHBDL4, VRHO.
Associated Diseases
- cataract
- X-linked dystonia-parkinsonism
- spinocerebellar ataxia type 15/16
- X-linked parkinsonism-spasticity syndrome
- schizophrenia
- spinocerebellar ataxia type 20
- torsion dystonia 2
- isolated dystonia
- substance abuse
- optic atrophy 2
