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

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: http://www.bing.com/images/search?q=people+with+aspartylglucosaminuria&FORM=HDRSC2#view=detail&id=37ADBA7EEBCCB8D87C561AA65081E657B4E8B83F&selectedIndex=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

References http://www.ncbi.nlm.nih.gov/projects/genome/guide/human/index.shtml http://ghr.nlm.nih.gov/gene/AGA https://www.labcorp.com/wps/wcm/connect/intgeneticslib/integratedgenetics/resources/diseases/aspartylglucosaminuria http://www.ismrd.org/glycoprotein_diseases/aspartylglucosaminuria http://en.wikipedia.org/wiki/Aspartylglucosaminuria *wasn’t sure how to properly cite references*