Everything about Haploinsufficiency totally explained
Haploinsufficiency occurs when a
diploid organism only has a single functional copy of a
gene (with the other copy inactivated by
mutation) and the single functional copy of the
gene doesn't produce enough of a gene product (typically a
protein) to bring about a
wild-type condition, leading to an abnormal or diseased state.
Haploinsufficiency is therefore an example of incomplete or partial
dominance, as a
heterozygote (with one mutant and one normal
allele) displays a
phenotypic effect.
A Haploinsufficient gene is therefore described as needing both alleles to be functional in order to express the wild type. A mutation is
not haploinsufficient, but dominant
loss of function mutations are the result of mutations in haploinsufficient genes.
Human diseases caused by haploinsufficiency include:
Further Information
Get more info on 'Haploinsufficiency'.
|
External Link Exchanges
Do you know how hard it is to get a link from a large encyclopaedia? Well we're different and will prove it. To get a link from us just add the following HTML to your site on a relevant page:
<a href="http://haploinsufficiency.totallyexplained.com">Haploinsufficiency Totally Explained</a>
Then simply click through this link from your web page. Our crawlers will verify your link, extract the title of your web page and instantly add a link back to it. If you like you can remove the words Totally Explained and embed the link in article text.
As long as your link remains in place, we'll keep our link to you right here. Please play fair - our crawlers are watching. Your site must be closely related to this one's topic. Any kind of spamming, dubious practises or removing the link will result in your link from us being dropped and, potentially, your whole site being banned. |
