REEP1

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What is the official name of the REEP1 gene?

The official name of this gene is “receptor accessory protein 1.”

REEP1 is the gene's official symbol. The REEP1 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 REEP1 gene?

The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in nerve cells (neurons) in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport.

The REEP1 protein plays a role in forming the network of tubules that make up the structure of the endoplasmic reticulum, regulating its size and determining how many proteins it can process. As part of its role in the endoplasmic reticulum, the REEP1 protein enhances the activity of certain other proteins called G protein-coupled receptors. These receptor proteins are eventually embedded within the outer membrane of cells, where they relay chemical signals from outside the cell to the interior of the cell.

The function of the REEP1 protein in the mitochondria is unknown.

How are changes in the REEP1 gene related to health conditions?

spastic paraplegia type 31 - caused by mutations in the REEP1 gene: At least 44 mutations in the REEP1 gene have been found to cause spastic paraplegia type 31. This condition is characterized by muscle stiffness (spasticity) and paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle movement. Most of the REEP1 gene mutations that cause this condition insert or remove small pieces of DNA from the gene or alter the way the gene's instructions are used to make the protein. These mutations often result in a short, nonfunctional protein that is quickly broken down. As a result, there is a reduction in functional REEP1 protein.

It is unclear how REEP1 gene mutations lead to the signs and symptoms of spastic paraplegia type 31. Researchers have shown that mitochondria in cells of affected individuals are less able to produce energy, which may contribute to the death of neurons and lead to the progressive movement problems of spastic paraplegia type 31; however, the exact mechanism that causes this condition is unknown.

Genetics Home Reference provides information about distal hereditary motor neuropathy, type V, which is also associated with changes in the REEP1 gene.

Where is the REEP1 gene located?

Cytogenetic Location: 2p11.2

Molecular Location on chromosome 2: base pairs 86,213,992 to 86,338,417

The REEP1 gene is located on the short (p) arm of chromosome 2 at position 11.2.

More precisely, the REEP1 gene is located from base pair 86,213,992 to base pair 86,338,417 on chromosome 2.

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

Where can I find additional information about REEP1?

You and your healthcare professional may find the following resources about REEP1 helpful.

Educational resources - Information pages
Molecular Biology of the Cell (fourth edition, 2002): G Protein-Coupled Receptors and TheirEffectors
Genetic Testing Registry - Repository of genetic test information (1 link)

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

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the REEP1 gene or gene products?

C2orf23
FLJ13110
receptor expression-enhancing protein 1
REEP1_HUMAN

See How are genetic conditions and genes named? in the Handbook.

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 REEP1?

cell ; distal ; DNA ; endoplasmic reticulum ; ER ; gene ; hereditary ; mitochondria ; motor ;neuropathy ; paraplegia ; protein ; receptor ; spasticity

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

References (8 links)

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.