Where is the COL7A1 gene?

COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21. 31. The gene is approximately 31,000 base pairs in size and is remarkable for the extreme fragmentation of its coding sequence into 118 exons. COL7A1 is transcribed into an mRNA of 9,287 base pairs.

Where is collagen 7 found?

Type VII collagen is the major component of structures in the skin called anchoring fibrils. These fibrils are found in a region known as the epidermal basement membrane zone, which is a two-layer membrane located between the top layer of skin, called the epidermis, and an underlying layer called the dermis.

How many exons does collagen have?

These 8 exons represent three different segments of the gene, but all encode information for the helical portion of the protein.

What is butterfly skin disease?

Epidermolysis bullosa is a rare genetic condition that makes skin so fragile that it can tear or blister at the slightest touch. Children born with it are often called “Butterfly Children” because their skin seems as fragile as a butterfly wing. Mild forms may get better with time.

What is Deb disease?

Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB).

What are the seven types of collagen?

There are 28 known types of collagen, but only seven types important to human health (I, II, III, IV, V, VI, and X). Most collagen supplements come from these five types. Type I collagen is the most abundant in the body. Type II collagen is the most common found in supplement form.

Where does type 5 collagen come from?

Type V collagen is a form of fibrillar collagen associated with classical Ehlers-Danlos syndrome. It is found within the dermal/epidermal junction, placental tissues, as well as in association with tissues containing type I collagen.

How many introns does collagen have?

These eight exons are small and are interrupted by seven introns, ranging between 100 and 1000 bp in size (Table I).

Is there a cure for EB?

There’s currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms. Treatment also aims to: avoid skin damage. improve quality of life.