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Genetics Home Reference: your guide to understanding genetic conditions
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PROM1

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

What is the official name of the PROM1 gene?

The official name of this gene is “prominin 1.”

PROM1 is the gene's official symbol. The PROM1 gene is also known by other names, listed below.

What is the normal function of the PROM1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8842):

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

From UniProt (http://www.uniprot.org/uniprot/O43490):

May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).

How are changes in the PROM1 gene related to health conditions?

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the PROM1 gene.
UniProt (http://www.uniprot.org/uniprot/O43490) provides the following information about the PROM1 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 41 (RP41): 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 is caused by mutations affecting the gene represented in this entry.

Cone-rod dystrophy 12 (CORD12): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. The disease is caused by mutations affecting the gene represented in this entry.

Retinal macular dystrophy 2 (MCDR2): A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8842) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PROM1 gene.
  • Bull's eye macular dystrophy
  • Cone-rod dystrophy 12
  • Retinitis pigmentosa 41
  • Stargardt disease 4
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the PROM1 gene and its association with health conditions.
OMIM
Number
Title

Where is the PROM1 gene located?

Cytogenetic Location: 4p15.32

Molecular Location on chromosome 4: base pairs 15,968,225 to 16,119,883

The PROM1 gene is located on the short (p) arm of chromosome 4 at position 15.32.

The PROM1 gene is located on the short (p) arm of chromosome 4 at position 15.32.

More precisely, the PROM1 gene is located from base pair 15,968,225 to base pair 16,119,883 on chromosome 4.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PROM1?

You and your healthcare professional may find the following resources about PROM1 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 PROM1 gene or gene products?

  • AC133
  • CD133
  • CORD12
  • MCDR2
  • MSTP061
  • PROML1
  • RP41
  • STGD4

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PROM1?

apoptosis ; atrophy ; bilateral ; cancer ; cell ; cholesterol ; differentiation ; epithelial ; epithelium ; expressed ; fundus ; gene ; hereditary ; inherited ; isoforms ; macula ; neurite ; peripheral ; photoreceptor ; pigment ; plasma ; plasma membrane ; posterior ; proliferation ; protein ; retina ; sensitivity ; stem cells ; tissue ; transcript ; transmembrane ; visual acuity

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

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: June 29, 2015