glycine amidinotransferase What does this protein make up or do? Chapter 15: Chromosome 15 DNA Sequence Chromosome 17,659 bp Name of Protein glycine amidinotransferase 15 Name of Gene GATM transcription What does this protein make up or do? Amino acid sequence mRNA 432 aa Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily. translation Cytoplasm A Cell Nucleus Condition/Disease a disorder that involves delayed development, intellectual disability, and in some cases muscle weakness.

Description of arginine: glycine amidinotransferase deficiency Symptoms and characteristics Arginine: glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.

Description of arginine: glycine amidinotransferase deficiency Who is affected? Anyone, but the following have a higher risk: People who have it in their gene type coming from their parents. The prevalence of arginine: glycine amidinotransferase deficiency is unknown. The disorder has been identified in only a few families. Outlook or quality of life Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Making it harder for them to move then an average person.

References "Arginine:glycine Amidinotransferase Deficiency." Genetics Home Reference. N.p., n.d. Web. 04 Mar. 2015. http://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency http://ghr.nlm.nih.gov/chromosome/15 http://chemistry.berea.edu/~biochemistry/2011/cl_tp/#_Toc310456243 Brief Description of Protein Function: Glyoxylate aminotransferase is a homodimeric protein meaning it has two identical molecules in its structure which catalyze the conversion of glyoxylate to glycine. This is an important function because the conversion to glycine rids the cell of glyoxylate which could react with calcium to form kidney stones.