lunes, 8 de febrero de 2016

SLC52A2 - solute carrier family 52 (riboflavin transporter), member 2 - Genetics Home Reference

SLC52A2 - solute carrier family 52 (riboflavin transporter), member 2 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the SLC52A2 gene?

The official name of this gene is “solute carrier family 52 (riboflavin transporter), member 2.”
SLC52A2 is the gene's official symbol. The SLC52A2 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 SLC52A2 gene?

The SLC52A2 gene provides instructions for making a riboflavin transporter protein called RFVT2 (formerly known as RFT3). This protein moves (transports) a vitamin called riboflavin (also called vitamin B2) across the cell membrane. The RFVT2 protein is found at especially high levels in cells of the brain and spinal cord and is important for absorbing riboflavin from the bloodstream into these tissues.
In the cells of the body, including those in the brain and spinal cord, riboflavin is the core component of molecules called flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). These molecules function as coenzymes, which means they help enzymes carry out chemical reactions. FAD and FMN are involved in many different chemical reactions and are required for a variety of cellular processes. One important role of these coenzymes is in the production of energy for cells. FAD and FMN are also involved in the breakdown (metabolism) of carbohydrates, fats, and proteins.

Does the SLC52A2 gene share characteristics with other genes?

The SLC52A2 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SLC52A2 gene related to health conditions?

riboflavin transporter deficiency neuronopathy - caused by mutations in the SLC52A2 gene
At least 11 mutations in the SLC52A2 gene have been found to cause riboflavin transporter deficiency neuronopathy. This neurological condition encompasses two disorders that were previously considered to be separate: Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. Some of the gene mutations involved in riboflavin transporter deficiency neuronopathy prevent production of the RFVT2 protein. Others lead to production of an abnormal protein with impaired ability to transport riboflavin. It is unclear how these changes lead to the nerve problems that cause hearing loss, muscle weakness in the face and limbs, and breathing problems in people with the disorder.

Where is the SLC52A2 gene located?

Cytogenetic Location: 8q24.3
Molecular Location on chromosome 8: base pairs 144,358,557 to 144,361,286
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)
The SLC52A2 gene is located on the long (q) arm of chromosome 8 at position 24.3.
The SLC52A2 gene is located on the long (q) arm of chromosome 8 at position 24.3.
More precisely, the SLC52A2 gene is located from base pair 144,358,557 to base pair 144,361,286 on chromosome 8.

Where can I find additional information about SLC52A2?

You and your healthcare professional may find the following resources about SLC52A2 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 SLC52A2 gene or gene products?

  • BVVLS2
  • D15Ertd747e
  • FLJ11856
  • GPCR41
  • GPR172A
  • G protein-coupled receptor 172A
  • hRFT3
  • PAR1
  • PERV-A receptor 1
  • porcine endogenous retrovirus A receptor 1
  • putative G-protein coupled receptor GPCR41
  • RFT3
  • RFVT2
  • riboflavin transporter 3
  • solute carrier family 52, riboflavin transporter, member 2

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 SLC52A2?

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

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