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ROM1

ROM1

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

What is the official name of the ROM1 gene?

The official name of this gene is “retinal outer segment membrane protein 1.”

ROM1 is the gene's official symbol. The ROM1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ROM1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the ROM1 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the ROM1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ROM1 gene's known or predicted involvement in human disease.

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. The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A digenic form of retinitis pigmentosa 7 results from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene has been reported (PubMed:8202715).

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ROM1 gene.
  • Retinitis pigmentosa
  • Retinitis pigmentosa 7
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the ROM1 gene and its association with health conditions.
OMIM
Number
Title

Where is the ROM1 gene located?

Cytogenetic Location: 11q13

Molecular Location on chromosome 11: base pairs 62,612,740 to 62,615,119

The ROM1 gene is located on the long (q) arm of chromosome 11 at position 13.

The ROM1 gene is located on the long (q) arm of chromosome 11 at position 13.

More precisely, the ROM1 gene is located from base pair 62,612,740 to base pair 62,615,119 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ROM1?

You and your healthcare professional may find the following resources about ROM1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ROM1 gene or gene products?

  • ROM
  • ROSP1
  • RP7
  • TSPAN23

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ROM1?

adhesion molecule ; degenerative ; fundus ; gene ; molecule ; mutation ; peripheral ; photoreceptor ; pigment ; protein ; retina

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 16, 2014