PTRF

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What is the official name of the PTRF gene?

The official name of this gene is “polymerase I and transcript release factor.”

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

The PTRF gene provides instructions for making a protein called cavin-1. This protein is found in cells and tissues throughout the body. It is most abundant in several types of cells: osteoblasts, which are cells that build bones; muscle cells; and adipocytes, which are cells that store fats for energy. Adipocytes make up most of the body's fatty (adipose) tissue.

Studies suggest that cavin-1 plays an essential role in forming and stabilizing caveolae, which are small pouches in the membrane that surrounds cells. Caveolae have multiple functions, some of which are not well understood. They are known to be involved in the transport of molecules from the cell membrane to the interior of the cell (endocytosis), processing of molecules on their way into the cell, maintaining the cell structure, and regulating chemical signaling pathways. Caveolae are particularly numerous in adipocytes, where they appear to be essential for the normal transport, processing, and storage of fats.

Within cells, cavin-1 is also found in the nucleus and in the fluid that surrounds the nucleus (the cytoplasm). In addition to its role in caveolae, studies suggest that this protein is involved in repairing damage to the outer cell membrane, cell growth and division (proliferation), cell movement, stopping cell division in older cells (senescence), and regulating various chemical signaling pathways. The functions of cavin-1 likely differ depending on the type of cell and the part of the cell where the protein is found.

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

congenital generalized lipodystrophy - caused by mutations in the PTRF gene: More than 10 mutations in the PTRF gene have been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 4. This rare condition is characterized by an almost total absence of adipose tissue and a very muscular appearance. A shortage of adipose tissue leads to multiple health problems, including high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features of congenital generalized lipodystrophy type 4 include muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe abnormalities of the heart rhythm (arrhythmias) that can lead to sudden death.
All of the identified PTRF gene mutations prevent cells from producing any functional cavin-1. A lack of this protein probably impairs the formation of caveolae. Researchers suspect that a shortage of these important structures on the cell membrane disrupts many cell functions. However, it is unknown specifically how the absence of cavin-1 leads to a loss of body fat and the other health problems associated with congenital generalized lipodystrophy type 4.

Where is the PTRF gene located?

Cytogenetic Location: 17q21.2

Molecular Location on chromosome 17: base pairs 42,402,449 to 42,423,320

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI

)

The PTRF gene is located on the long (q) arm of chromosome 17 at position 21.2.

More precisely, the PTRF gene is located from base pair 42,402,449 to base pair 42,423,320 on chromosome 17.

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

Where can I find additional information about PTRF?

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

Educational resources - Information pages
Molecular Biology of the Cell (fourth edition, 2002): Transport into the Cell from the Plasma Membrane: Endocytosis
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 (4 links)

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

CAVIN
CAVIN1
cavin-1
CGL4
FKSG13
RNA polymerase I and transcript release factor
TTF-I interacting peptide 12

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 PTRF?

adipocytes ; adipose tissue ; cell ; cell division ; cell membrane ; congenital ; cytoplasm ; diabetes ;diabetes mellitus ; endocytosis ; gene ; hypertriglyceridemia ; joint ; lipodystrophy ; muscle cells ;nucleus ; peptide ; proliferation ; protein ; pyloric ; RNA ; RNA polymerase ; stenosis ; stomach ;tissue ; transcript ; triglycerides

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