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Product Name FHIT Chinese Name 脆性组氨酸三联体抗体 Alias fragile histidine triad; AP3A hydrolase; AP3A hydrolase fragile site 3p14.2; AP3Aase; Bis 5' adenosyl triphosphatase; Dinucleosidetriphosphatase; FRA 3B; FRA3B; Fragile histidine triad gene; Fragile histidine triad protein; Tumor suppressor protein; FHIT_HUMAN. literatures Specific References (1) | SL1769R has been referenced in 1 publications.[IF=2.41] Liu, Wen-bin, et al. "CpG island hypermethylation of multiple tumor suppressor genes associated with loss of their protein expression during rat lung carcinogenesis induced by 3-methylcholanthrene and diethylnitrosamine." Biochemical and biophysical research communications 402.3 (2010): 507. IHC-P ; Rat.Research Area Tumour immunology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 17kDa Cellular localization The nucleus cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human FHIT: 31-147/147 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
Function:
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
Subunit:
Homodimer.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines.
DISEASE:
Glycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 1 HIT domain.
SWISS:
P49789
Gene ID:
2272
Database links:
Entrez Gene: 2272 Human
Entrez Gene: 14198 Mouse
Omim: 601153 Human
SwissProt: P49789 Human
SwissProt: O89106 Mouse
Unigene: 655995 Human
Unigene: 441926 Mouse
Unigene: 45598 Rat
脆性组氨酸三联体(FHIT)作为Tumour抑制因子发挥作用,其基因的突变和缺失与人类一系列Tumour的发生和发展密切相关。这些Tumour发生部位包括肺、头颈部、乳腺、结肠、胃以及胰腺。
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