background:
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].
Function:
May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.
Subcellular Location:
Membrane; Multi-pass membrane protein.
Tissue Specificity:
Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
DISEASE:
Defects in ROM1 may cause retinitis pigmentosa (RP); when associated with defects in PRPH2.
Similarity:
Belongs to the PRPH2/ROM1 family.
Database links:
UniProtKB/Swiss-Prot: Q03395.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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