Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1). Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later in childhood or adulthood. Belongs to the argininosuccinate synthase family. Type 1 subfamily. Note: This description may include information from UniProtKB.
Protein type: Endoplasmic reticulum; Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - alanine, aspartate and glutamate; Mitochondrial; EC 220.127.116.11; Ligase
Chromosomal Location of Human Ortholog: 9q34.1
Cellular Component: cytoplasm; cytosol
Molecular Function: amino acid binding; protein binding; argininosuccinate synthase activity; ATP binding
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.