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ASS1 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: Amino Acid Metabolism - alanine, aspartate and glutamate; Amino Acid Metabolism - arginine and proline; EC; Endoplasmic reticulum; Ligase; Mitochondrial
Chromosomal Location of Human Ortholog: 9q34.11
Cellular Component: cytoplasm; cytosol
Molecular Function: amino acid binding; argininosuccinate synthase activity; identical protein binding; protein binding; RNA binding
Biological Process: arginine biosynthetic process; argininosuccinate metabolic process; aspartate metabolic process; citrulline metabolic process; positive regulation of nitric oxide biosynthetic process; urea cycle
Disease: Citrullinemia, Classic
Reference #:  P00966 (UniProtKB)
Alt. Names/Synonyms: Argininosuccinate synthase; argininosuccinate synthase 1; argininosuccinate synthetase 1; ASS; ASS1; ASSY; Citrulline--aspartate ligase; citrulline-aspartate ligase; CTLN1
Gene Symbols: ASS1
Molecular weight: 46,530 Da
Basal Isoelectric point: 8.08  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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