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ROM1

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enriched (Rod photoreceptor cells)

Immune cell specificity

Immune cell enhanced (NK-cell)

Cell line specificity

Cell line enhanced (HSkMC, U-266/84)

Interaction

Homodimer; disulfide-linked (PubMed:1610568). Forms a homotetramer (By similarity). Forms a heterotetramer with PRPH2 (By similarity). Homotetramer and heterotetramer core complexes go on to form higher order complexes by formation of intermolecular disulfide bonds (By similarity). Interacts with STX3 (By similarity). Interacts with SNAP25 (By similarity).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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