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TMEM127

TMEM127

Reviewed October 2011

What is the official name of the TMEM127 gene?

The official name of this gene is “transmembrane protein 127.”

TMEM127 is the gene's official symbol. The TMEM127 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 TMEM127 gene?

The TMEM127 gene provides instructions for making a protein that acts as a tumor suppressor protein, which means it prevents cells from growing and dividing too quickly or in an uncontrolled way. The TMEM127 protein controls a signaling pathway that leads to cell growth and survival. Research shows that this pathway, regulated by a protein complex called mTORC1, is blocked (inhibited) by the TMEM127 protein, although the specific action of the TMEM127 protein is unknown.

How are changes in the TMEM127 gene related to health conditions?

nonsyndromic paraganglioma - increased risk from variations of the TMEM127 gene

Mutations in the TMEM127 gene increase the risk of developing a noncancerous tumor associated with the nervous system called paraganglioma or pheochromocytoma (a type of paraganglioma). TMEM127 gene mutations occur most commonly in people with pheochromocytoma, and they are rarely found in people with other paraganglioma. Specifically, TMEM127 gene mutations are associated with nonsyndromic paraganglioma or pheochromocytoma, which means the tumors occur without additional features of an inherited syndrome. At least 19 TMEM127 gene mutations have been identified in people with one of these tumors. A TMEM127 gene mutation increases the risk of tumor formation. The TMEM127 gene mutations associated with paraganglioma or pheochromocytoma change single protein building blocks (amino acids) in the TMEM127 protein sequence or result in a shortened protein.

Most people with TMEM127-related paraganglioma or pheochromocytoma acquire an additional mutation that deletes the normal copy of the gene. This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in tumor cells. Together, the two mutations lead to reduced or absent TMEM127 protein. As a result, the cell growth pathway controlled by the TMEM127 protein is abnormally active, leading to tumor formation.

Where is the TMEM127 gene located?

Cytogenetic Location: 2q11.2

Molecular Location on chromosome 2: base pairs 96,250,207 to 96,266,012

The TMEM127 gene is located on the long (q) arm of chromosome 2 at position 11.2.

The TMEM127 gene is located on the long (q) arm of chromosome 2 at position 11.2.

More precisely, the TMEM127 gene is located from base pair 96,250,207 to base pair 96,266,012 on chromosome 2.

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

Where can I find additional information about TMEM127?

You and your healthcare professional may find the following resources about TMEM127 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 TMEM127 gene or gene products?

  • FLJ20507
  • FLJ22257
  • TM127_HUMAN

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 TMEM127?

acids ; cell ; gene ; inherited ; mutation ; nervous system ; pheochromocytoma ; protein ; protein sequence ; somatic mutation ; syndrome ; transmembrane ; tumor

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

See also Understanding Medical Terminology.

References (7 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: October 2011
Published: December 16, 2014