1. What does this protein make up or do? junctional epidermolysis bullosa
Chapter 18: Chromosome 18
What does this protein make up or do?
Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction.
265,469bp
DNA Sequence
Chromosome
Name of Protein 18
Name of Gene
Laminin, alpha 3
LAMA3
transcription
Amino acid sequence
mRNA
3333 aa
translation
Cytoplasm
A Cell
Nucleus
Condition/Disease
junctional epidermolysis bullosa

2. Description of Junctional epidermolysis bullosa
Symptoms and characteristics
Junctional epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily.
Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food.
Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching.

3. Description of Junctional epidermolysis bullosa (cont.)
Who is affected?
The symptoms are present from birth
Outlook or quality of life
•Contracture deformities (for example, at the fingers, elbows, and knees) and other deformities
•Swallowing problems if mouth and esophagus are affected
•Fused fingers and toes
•Limited mobility from scarring
Researcher: RC

4. References http://ghr.nlm.nih.gov/chromosome/18/show/ Genes
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