基因名称(Gene Name)
ADCY10 SAC
免疫原
Synthesized peptide derived from human ADCYA AA range: 368-418
特异性
This antibody detects endogenous levels of ADCYA at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014],
功能
catalytic activity:ATP = 3',5'-cyclic AMP + diphosphate.,cofactor:Binds 2 magnesium ions per subunit.,disease:Genetic variations in ADCY10 are associated with absorptive hypercalciuria type 2 (HCA2) [MIM:143870]. Absorptive hypercalciuria (AH) is a common cause of calcium oxalate nephrolithiasis. Clinically, AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium and immunoreactive PTH (iPTH). It is often accompanied by low bone mineral density (BMD), particularly of the lumbar spine. About 50% of patients with AH present with a family history of calcium oxalate nephrolithiasis and hypercalciuria.,enzyme regulation:Activated by manganese or magnesium ions. In the presence of magnesium ions, the enzyme is activated by bicarbonate while in the presence of manganese ions, the enzyme is inhibited by bicarbonate. In the absence of magnesium and bic
