ROM1


Description

The ROM1 (retinal outer segment membrane protein 1) is a protein-coding gene located on chromosome 11.

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene. This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor protein, peripherin-2 (PRPH2; retinal degeneration, slow; RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa.

Plays a role in rod outer segment (ROS) morphogenesis. May play a role with PRPH2 in the maintenance of the structure of ROS curved disks. Plays a role in the organization of the ROS and maintenance of ROS disk diameter. Involved in the maintenance of the retina outer nuclear layer.

ROM1 is also known as ROM, ROSP1, RP7, TSPAN23.

Associated Diseases


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