Argininosuccinate Synthetase 1 (ASS1) Antibody – Goat Polyclonal

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

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.

Protein type: Amino Acid Metabolism - arginine and proline; Endoplasmic reticulum; Amino Acid Metabolism - alanine, aspartate and glutamate; EC 6.3.4.5; Mitochondrial; Ligase

Chromosomal Location of Human Ortholog: 9q34.1

Cellular Component: cytoplasm; cytosol; endoplasmic reticulum; lysosome; mitochondrial outer membrane; nucleus; perikaryon

Molecular Function: amino acid binding; argininosuccinate synthase activity; ATP binding; identical protein binding; protein binding; toxin binding

Biological Process: acute-phase response; aging; arginine biosynthetic process; argininosuccinate metabolic process; aspartate metabolic process; citrulline metabolic process; kidney development; liver development; midgut development; positive regulation of nitric oxide biosynthetic process; response to drug; response to estradiol stimulus; response to mycotoxin; response to nutrient; response to zinc ion; urea cycle

Disease: Citrullinemia, Classic