ROM1
Function
Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity).
Involvement in disease
Retinitis pigmentosa 7
RP7
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A digenic form of retinitis pigmentosa 7 results from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene has been reported (PubMed:8202715).
Sequence Similarities
Belongs to the PRPH2/ROM1 family.
Tissue Specificity
Retina photoreceptors (at protein level) (PubMed:1610568, PubMed:8504299). In rim region of ROS disks (PubMed:1610568).
Cellular localization
- Photoreceptor inner segment membrane
- Multi-pass membrane protein
- Photoreceptor outer segment membrane
- Multi-pass membrane protein
Alternative names
TSPAN23, ROM1, Rod outer segment membrane protein 1, ROSP1, Tetraspanin-23, Tspan-23