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Spermine synthase catalyzes the production of spermine from spermidine. Spermine, a polyamine ubiquitously present in most organisms, is essential for normal cell growth and differentiation. Because absence of spermine increases sensitivity of cells to anti-tumor agents, spermine synthase (and other polyamine biosynthesis) is an attractive target for anti-neoplastic therapy.
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TC
This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
ITPase (inosine triphosphate pyrophosphatase) is also known as putative oncogene protein hlc14-06-p or ITPA (inosine triphosphatase (nucleoside triphosphate pyrophosphatase)) and is a 194 amino acid protein. ITPase is abundantly expressed in heart, liver, sex glands, thyroid and adrenal gland, and is localized to the cytoplasm in the cell. ITPase catalyzes the pyrophosphohydrolysis of both ITP (inosine triphosphate) and dITP (deoxyinosine triphosphate) to IMP (inosine monophosphate) and di
The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes includ