argininosuccinate lyase What does this protein make up or do? Chapter 7: Chromosome 7 DNA Sequence Chromosome 17,555 bp Name of Protein 7 Name of Gene argininosuccinate lyase ASL transcription Amino acid sequence mRNA 464 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Catalyzes  catalyzes the reversible breakdown of argininosuccinate Condition/Disease argininosuccinic aciduria

Description of argininosuccinic aciduria Symptoms and characteristics Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability.

Description of argininosuccinic aciduria Who is affected? Infants New borns Outlook or quality of life Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress. Researcher: LR

References http://www.ncbi.nlm.nih.gov/protein?LinkName=gene_protein&from_uid=435 http://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria http://en.wikipedia.org/wiki/Argininosuccinate_lyase.