TRIP11

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What is the official name of the TRIP11 gene?

The official name of this gene is “thyroid hormone receptor interactor 11.”

TRIP11 is the gene's official symbol. The TRIP11 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 TRIP11 gene?

The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210). This protein is found in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Studies suggest that the GMAP-210 protein helps to maintain the structure of the Golgi apparatus, and it may also be involved in the transport of certain proteins out of cells.

Although the GMAP-210 protein is found throughout the body, researchers suspect that it may have a particularly important role in cells called chondrocytes in the developing skeleton. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

How are changes in the TRIP11 gene related to health conditions?

achondrogenesis - caused by mutations in the TRIP11 gene: At least nine mutations in the TRIP11 gene have been found to cause a form of achondrogenesis known as type 1A or the Houston-Harris type. This rare disorder of bone development is characterized by extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis. Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or soon after birth.
The TRIP11 gene mutations associated with achondrogenesis type 1A lead to the production of a nonfunctional version of the GMAP-210 protein or prevent the cell from producing any of this protein. Studies suggest that a shortage of GMAP-210 activity alters the structure and function of the Golgi apparatus, which impairs protein modification. Chondrocytes appear to be particularly sensitive to these changes, and malfunction of the Golgi apparatus in these cells likely underlies the problems with bone formation in achondrogenesis type 1A.

Where is the TRIP11 gene located?

Cytogenetic Location: 14q31-q32

Molecular Location on chromosome 14: base pairs 91,965,990 to 92,040,139

The TRIP11 gene is located on the long (q) arm of chromosome 14 between positions 31 and 32.

More precisely, the TRIP11 gene is located from base pair 91,965,990 to base pair 92,040,139 on chromosome 14.

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

Where can I find additional information about TRIP11?

You and your healthcare professional may find the following resources about TRIP11 helpful.

Educational resources - Information pages
Madame Curie Bioscience Database: The Golgi Apparatus
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 TRIP11 gene or gene products?

ACG1A
CEV14
clonal evolution-related gene on chromosome 14 protein
GMAP-210
Golgi-associated microtubule-binding protein 210
Golgi-microtubule-associated protein of 210 kDa
thyroid receptor-interacting protein 11
TR-interacting protein 11
TRIP-11
TRIP230
TRIPB_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 TRIP11?

bone formation ; cartilage ; cell ; chromosome ; evolution ; gene ; Golgi apparatus ; hormone ;microtubule ; ossification ; pelvis ; protein ; receptor ; thyroid ; tissue

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

References (5 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