Retinal Outer Segment Membrane Protein 1 (ROM1)

ROM; ROSP1; TSPAN23; Rod Outer Segment Membrane Protein; Tetraspanin-23

SPN	U091
HGNC	10254
MGI	97998
PubMed	10802659
RGD	1306070
UniProt	Q03395
Wiki	ROM1

Rod outer segment membrane protein 1 is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
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.

Reference

"Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies."
Neuron 8:1171-1184(1992) [PubMed] [Europe PMC] [Abstract]

"Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation."
Hum. Mol. Genet. 2:385-391(1993) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci."
Science 264:1604-1608(1994) [PubMed] [Europe PMC] [Abstract]

"Polymorphisms and rare sequence variants at the ROM1 locus."
Hum. Mol. Genet. 2:1975-1977(1993) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the ROM1 gene in retinitis pigmentosa."
Hum. Mol. Genet. 4:1895-1902(1995) [PubMed] [Europe PMC] [Abstract]

"Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa."
Invest. Ophthalmol. Vis. Sci. 38:1972-1982(1997) [PubMed] [Europe PMC] [Abstract]