ROM1 gene

retinal outer segment membrane protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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, 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. [provided by RefSeq, Jul 2008]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa
  • Retinitis pigmentosa 7

From UniProt:

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. [MIM:608133]

Cytogenetic Location: 11q12.3, which is the long (q) arm of chromosome 11 at position 12.3

Molecular Location: base pairs 62,612,741 to 62,615,120 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 11q12.3, which is the long (q) arm of chromosome 11 at position 12.3
  • ROM
  • ROSP1
  • RP7
  • TSPAN23