AASS,赖氨酸酮戊二酸还原酶抗体

产品编号HZ-11391R
英文名称AASS
中文名称赖氨酸酮戊二酸还原酶抗体
别 名Alpha aminoadipic semialdehyde synthase mitochondrial; LKR/SDH; LKRSDH; LORSDH; Lysine ketoglutarate reductase; Saccharopine dehydrogenase; AASS_HUMAN.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 信号转导
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
AASS,赖氨酸酮戊二酸还原酶抗体产品应用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99kDa
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human LKRSDH (878-926aa)
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.
AASS,赖氨酸酮戊二酸还原酶抗体PubMedPubMed
产品介绍background:
Alpha-aminoadipic semialdehyde synthase (AASS), also designated lysine ketoglutarate reductase (LKR) or saccharopine dehydrogenase (SDH), is a 926 amino acid protein that exists as a homodimer in the mitochondria. AASS acts as a bifunctional enzyme containing the lysine alpha-ketoglutarate reductase (LKR) and saccharopine dehydrogenase activities that catalyzes the first two steps in lysine degradation. It is widely expressed with highest expression in liver and transcription of the AASS gene is induced upon starvation. Mutations in the gene encoding AASS result in various forms familial hyperlysinemias (FH), autosomal recessive disorders characterized by hyperlysinemia, lysinuria, and variable saccharopinuria. However, no adverse mental or physical effects have been found in patients with hyperlysinemia.

Function:
Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.

Subunit:
Homodimer

Subcellular Location:
Mitochondrial

Tissue Specificity:
Expressed in all 16 tissues examined with highest expression in the liver.

AASS,赖氨酸酮戊二酸还原酶抗体DISEASE:
Defects in AASS are the cause of hyperlysinemia (HYPLYS) [MIM:238700]. Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria.

Similarity:
In the N-terminal section; belongs to the AlaDH/PNT family.
In the C-terminal section; belongs to the saccharopine dehydrogenase family.

Database links:
Entrez Gene: 10157 Human
Omim: 605113 Human
SwissProt: Q9UDR5 Human
Unigene: 156738 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.