NAGS Antibody (PACO10721)
- SKU:
- PACO10721
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IF
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | NAGS Antibody (PACO10721) |
抗体コード: | PACO10721 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IF |
推奨される希釈: | |
反応性: | Human, Mouse, Rat |
免疫原: | Human NAGS |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | N-acetylglutamate synthase;NAGS;AGAS;ARGA;MGC133025 ; |
UniProt Protein Function: | NAGS: Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity. Defects in NAGS are the cause of N-acetylglutamate synthase deficiency (NAGSD). NAGSD is a rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. Belongs to the acetyltransferase family. |
UniProt Protein Details: | Protein type:Acetyltransferase; Mitochondrial; Amino Acid Metabolism - arginine and proline; EC 2.3.1.1 Chromosomal Location of Human Ortholog: 17q21.31 Cellular Component: mitochondrial matrix Molecular Function:amino-acid N-acetyltransferase activity Biological Process: glutamate metabolic process; arginine biosynthetic process; urea cycle Disease: N-acetylglutamate Synthase Deficiency |
NCBI Summary: | The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q8N159 |
NCBI GenInfo Identifier: | 74714699 |
NCBI Gene ID: | 162417 |
NCBI Accession: | Q8N159.1 |
UniProt Related Accession: | Q8N159 |
Molecular Weight: | |
NCBI Full Name: | N-acetylglutamate synthase, mitochondrial |
NCBI Synonym Full Names: | N-acetylglutamate synthase |
NCBI Official Symbol: | NAGS |
NCBI Official Synonym Symbols: | AGAS; ARGA |
NCBI Protein Information: | N-acetylglutamate synthase, mitochondrial |
UniProt Protein Name: | N-acetylglutamate synthase, mitochondrial |
UniProt Synonym Protein Names: | Amino-acid acetyltransferaseCleaved into the following 3 chains:N-acetylglutamate synthase long form; N-acetylglutamate synthase short form; N-acetylglutamate synthase conserved domain form |
Protein Family: | N-acetylglutamate synthase |
UniProt Gene Name: | NAGS |
UniProt Entry Name: | NAGS_HUMAN |