1. What does this protein make up or do? aspartylglucosaminuria
Chapter 4: Chromosome 4
DNA Sequence
Chromosome
11,730
Name of Protein 4
Name of Gene
Aspartylglucosaminidase
AGA
transcription
Amino acid sequence
mRNA
346 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
provides instructions to produce an enzyme called Aspartylglucosaminidase. The enzymes help break down complexes of sugar molecules attached to certain proteins.
Condition/Disease
aspartylglucosaminuria

2. Description of aspartylglucosaminuria
Symptoms and characteristics
Aspartylglucosaminuria is a disease that affect the movement and learning of the person and its first signs are evident at ages 2 or 3
First symptoms include delayed speech which over time worsen (adults loose most of speech and have only a few words in their vocabulary)
Bones over time weaken and are prone to fracture
People with Aspartylglucosaminuria tend to have Frequent upper respiratory infections
In some cases aspartylglucosaminuria has led to seizures, loos skin and large range in joints
Normal Vision
As viewed by a person with glaucoma
Pictures used with permission from URL:

3. Description of Aspartylglucosaminuria
Who is affected? This disease is commonly seen in finaland, affecting 1 in 18, 500 people. Although we do not have enough information to make a conclusion, it is likely that people out of Finland can be affected by this disease as well.
Outlook or quality of life
There is no known treatment for Aspartylglucosaminuria
In some cases, Aspartylglucosaminuria has led to sezures
Bones progressively become weaker and are prone to fracture
Aspartylglucosminuria affects the learning pace of person
Researcher: LM

4. References
*wasn’t sure how to properly cite references*