What does ATP-binding cassette do?
What does ATP-binding cassette do?
ATP-binding cassette (ABC) transporters are a large superfamily of membrane proteins with diverse functions (Holland et al. 2003). They convert the energy gained from ATP hydrolysis into trans-bilayer movement of substrates either into the cytoplasm (import) or out of the cytoplasm (export).
What does the ABCA12 gene do?
The ABCA12 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across cell membranes.
Where is the ATP-binding cassette?
The NBD or ATP-binding cassette (ABC) domain, on the other hand, is located in the cytoplasm and has a highly conserved sequence. The NBD is the site for ATP binding.
Where is the ABCA12 gene?
The ABCA12 gene located on chromosome 2q34 encodes a keratinocyte lipid transporter protein. The transporter plays an important role in transporting lipids in cells that make up the outermost layer of the skin (Yamanaka et al., 2007).
Does ATP cross the blood brain barrier?
ATP-binding cassette (ABC) transporters are highly expressed by brain endothelial cells that form the blood–brain barrier (BBB). These efflux pumps play an important role in maintaining brain homeostasis as they actively hinder the entry of unwanted blood-derived compounds into the central nervous system (CNS).
How does a defect in a ABCA12 gene affect the formation of healthy skin?
A loss of functional ABCA12 protein causes numerous problems with the development of the epidermis before and after birth. Abnormalities in lipid transport prevent the skin from forming an effective barrier and result in the hard, thick scales characteristic of harlequin ichthyosis.
What are the symptoms of harlequin ichthyosis?
A child born with Harlequin ichthyosis will likely have red, scaly skin throughout their life. They may also have: sparse or thin hair as a result of scales on the scalp. unusual facial features due to stretched skin.
What is a half transporter?
Some ABC genes encode proteins that are ‘half-transporters’ (meaning that two subunits bind as homodimers or a heterodimer), whereas others are ‘full-transporters’.
What chromosome is the ABCA12 gene on?
ABCA12
| Gene location (Human) | ||
|---|---|---|
| Chr. | Chromosome 2 (human) | |
| Band | 2q35 | Start |
| End |
Which drug crosses blood-brain barrier?
Gabapentin is a water-soluble drug that is active in the CNS because the drug crosses the BBB on the large neutral amino-acid transporter,72 which is LAT1.
What are ATP-dependent transporters?
ATP-binding cassette (ABC) transporters are an example of ATP-dependent pumps. ABC transporters are ubiquitous membrane-bound proteins, present in all prokaryotes, as well as plants, fungi, yeast and animals. These pumps can move substrates in (influx) or out (efflux) of cells.