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RPS17

RPS17

Reviewed February 2012

What is the official name of the RPS17 gene?

The official name of this gene is “ribosomal protein S17.”

RPS17 is the gene's official symbol. The RPS17 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 RPS17 gene?

The RPS17 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

Each ribosome is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPS17 gene is among those found in the small subunit.

The specific functions of the RPS17 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

Does the RPS17 gene share characteristics with other genes?

The RPS17 gene belongs to a family of genes called RPS (S ribosomal proteins).

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 RPS17 gene related to health conditions?

Diamond-Blackfan anemia - caused by mutations in the RPS17 gene

At least three RPS17 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of the RPS17 protein. Studies indicate that a shortage of functioning ribosomal proteins may increase the self-destruction of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia). Abnormal regulation of cell division or inappropriate triggering of apoptosis may contribute to the other health problems and unusual physical features that affect some people with Diamond-Blackfan anemia.

Where is the RPS17 gene located?

Cytogenetic Location: 15q

Molecular Location on chromosome 15: base pairs 82,536,752 to 82,540,456

The RPS17 gene is located on the long (q) arm of chromosome 15.

The RPS17 gene is located on the long (q) arm of chromosome 15.

More precisely, the RPS17 gene is located from base pair 82,536,752 to base pair 82,540,456 on chromosome 15.

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

Where can I find additional information about RPS17?

You and your healthcare professional may find the following resources about RPS17 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 RPS17 gene or gene products?

  • DBA4
  • MGC72007
  • 40S ribosomal protein S17
  • RPS17L1
  • RPS17L2
  • RS17_HUMAN
  • S17

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 RPS17?

anemia ; apoptosis ; bone marrow ; cell ; cell division ; gene ; protein ; ribosomes ; subunit

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

See also Understanding Medical Terminology.

References (11 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.

 
Reviewed: February 2012
Published: October 9, 2014