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A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
Examples of channel/carrier proteins include the GLUT 1 uniporter, sodium channels, and potassium channels. The solute carriers and atypical SLCs [1] are secondary active or facilitative transporters in humans. [2] [3] Collectively membrane transporters and channels are known as the transportome. [4]
Research suggests that potassium, calcium and sodium channels can function as oxygen sensors in mammals and plants, [3] [4] and has correlated defects in specific carrier proteins with specific diseases. [5] A membrane transport protein (or simply transporter) is a membrane protein [6] that acts as such a carrier.
Uniporter carrier proteins work by binding to one molecule or substrate at a time. Uniporter channels open in response to a stimulus and allow the free flow of specific molecules. [2] There are several ways in which the opening of uniporter channels may be regulated: Voltage – Regulated by the difference in voltage across the membrane
An example of a chloride-bicarbonate antiporter is the chloride anion exchanger, also known as down-regulated in adenoma (protein DRA). It is found in the intestinal mucosa , especially in the columnar epithelium and goblet cells of the apical surface of the membrane, where it carries out the function of chloride and bicarbonate exchange. [ 39 ]
An asymptomatic carrier is a person or other organism that has become infected with a pathogen, but shows no signs or symptoms. [ 1 ] Although unaffected by the pathogen, carriers can transmit it to others or develop symptoms in later stages of the disease.
The incidence of X-linked recessive conditions in females is the square of that in males: for example, if 1 in 20 males in a human population are red–green color blind, then 1 in 400 females in the population are expected to be color-blind (1 / 20)*(1 / 20). Examples include: Aarskog–Scott syndrome; Adrenoleukodystrophy (ALD) Bruton's ...
The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. [ 1 ] [ 2 ] Most members of the SLC group are located in the cell membrane . The SLC gene nomenclature system was originally proposed by the HUGO Gene Nomenclature Committee ( HGNC ) and is the basis for the official HGNC names of ...