CPS1,氨甲酰磷酸合成酶1抗体

产品编号HZ-14034R
英文名称CPS1
中文名称氨甲酰磷酸合成酶1抗体
别 名Carbamoyl phosphate synthase [ammonia]; Carbamoyl phosphate synthase [ammonia] mitochondrial; Carbamoyl phosphate synthase; Carbamoyl phosphate synthetase 1; Carbamoyl phosphate synthetase 1 mitochondrial; Carbamoyl phosphate synthetase I; Carbamoyl-phosphate synthase [ammonia]; Carbamoyl-phosphate synthetase I; Carbamoylphosphate synthase; Carbamoylphosphate synthetase 1; Carbamoylphosphate synthetase I; CPS 1; Cps1; CPSase 1; CPSase I; CPSASE1; CPSM_HUMAN; mitochondrial; MS738.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 神经生物学 信号转导 细胞类型标志物 新陈代谢 线粒体
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Dog, Sheep,
 CPS1,氨甲酰磷酸合成酶1抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量160kDa
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human CPS1
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
 CPS1,氨甲酰磷酸合成酶1抗体PubMedPubMed
产品介绍background:
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

Function:
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

Subcellular Location:
Mitochondrion.

Tissue Specificity:
Primarily in the liver and small intestine.

DISEASE:
Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. Note=Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406.

Similarity:
Contains 2 ATP-grasp domains.
Contains 1 glutamine amidotransferase type-1 domain.

Gene ID:
1373

Database links:
Entrez Gene: 1373 Human
Omim: 608307 Human
SwissProt: P31327 Human
Unigene: 149252 Human

 CPS1,氨甲酰磷酸合成酶1抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.