jueves, 14 de mayo de 2015

FAM83H - family with sequence similarity 83, member H - Genetics Home Reference

FAM83H - family with sequence similarity 83, member H - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the FAM83H gene?

The official name of this gene is “family with sequence similarity 83, member H.”
FAM83H is the gene's official symbol. The FAM83H 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 FAM83H gene?

The FAM83H gene provides instructions for making a protein whose function is not well understood. The protein is found in several types of cells, including specialized cells called ameloblasts. Ameloblasts produce tooth enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. The FAM83H protein is thought to be involved in the formation of enamel, although its role in this process is unknown.

How are changes in the FAM83H gene related to health conditions?

amelogenesis imperfecta - caused by mutations in the FAM83H gene
At least 20 mutations in the FAM83H gene have been found in an autosomal dominant form of a disorder of tooth development called amelogenesis imperfecta. Autosomal dominant inheritance means that one copy of the FAM83H gene in each cell is altered. All of the knownFAM83H gene mutations lead to production of an abnormally short protein. While the normal protein is found in the fluid-filled space inside the cell (the cytoplasm), the altered protein is found in the cell's nucleus. Researchers speculate that the altered protein produced from the mutated copy of the gene interferes with the function of the normal protein produced from the non-mutated copy of the gene (such mutations are described as "dominant-negative"). However, researchers do not know how the altered protein leads to teeth with unusually thin, rough, yellowish-brown enamel.

Where is the FAM83H gene located?

Cytogenetic Location: 8q24.3
Molecular Location on chromosome 8: base pairs 143,723,932 to 143,738,029
The FAM83H gene is located on the long (q) arm of chromosome 8 at position 24.3.
The FAM83H gene is located on the long (q) arm of chromosome 8 at position 24.3.
More precisely, the FAM83H gene is located from base pair 143,723,932 to base pair 143,738,029 on chromosome 8.

Where can I find additional information about FAM83H?

You and your healthcare professional may find the following resources about FAM83H 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 FAM83H gene or gene products?

  • AI3
  • FAM83H variant 1
  • FLJ46072
  • protein FAM83H

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 FAM83H?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 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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