Exopolyphosphatase prune1
WebMar 3, 2024 · exopolyphosphatase PRUNE1: CCP110: centriolar coiled-coil protein of 110 kDa: SEC16A: protein transport protein Sec16A: CRYBG3: very large A-kinase anchor protein: SPAG5: sperm-associated antigen 5: DCP1A: mRNA-decapping enzyme 1A: STON1: stonin-1: DCP1B: mRNA-decapping enzyme 1B: TRAK1: trafficking kinesin … WebMar 2, 2024 · Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity. bioRxiv March 2, 2024 Caffey disease: new perspectives on old questions.
Exopolyphosphatase prune1
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WebGene target information for PRUNE1 - prune exopolyphosphatase 1 (human). Find diseases associated with this biological target and compounds tested against it in … WebMar 26, 2024 · NMIHBA is caused by biallelic variants in PRUNE1 encoding prune exopolyphosphatase 1. We provide in-depth clinical description of two affected siblings harboring compound heterozygous variant alleles, c.383G>A (p.Arg128Gln), c.520G>T (p.Gly174*) in PRUNE1 . To gain insights into disease biology, we biochemically …
WebThis protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants.
http://www.informatics.jax.org/marker/MGI:1925152 WebExopolyphosphatase. Exopolyphosphatase (PPX) is a phosphatase enzyme which catalyzes the hydrolysis of inorganic polyphosphate, a linear molecule composed of up to …
WebMar 21, 2024 · PRUNE1 (Prune Exopolyphosphatase 1) is a Protein Coding gene. Diseases associated with PRUNE1 include Neurodevelopmental Disorder With Microcephaly, Hypotonia, And …
WebZollo et al. report that mutations in PRUNE1, a phosphoesterase superfamily molecule, underlie primary microcephaly and profound global developmental delay in f ... Finally, the exopolyphosphatase activity assay (Tammenkoski et al., 2008) measuring Kcat/Km ratios versus P4-tetraphosphates substrates, show that both mutant PRUNE (p.D30N and p ... energizing morning yoga routineWebExopolyphosphatase PRUNE1 Definition: Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration … dr clay campbell alWebPRUNE1 is ubiquitously expressed across multiple tissues with widespread central nervous system expression during fetal development in humans ( 5 ). Previous studies have implicated PRUNE1 in a complex network of interactions regulating cell cycle and motility, with elevated PRUNE1 expression associated with cancer metastasis ( 6–8 ). dr clay dolphin taleWebExopolyphosphatase PRUNE1 (Human) UniProt Q86TP1 - PRUN1_HUMAN. Gene PRUNE1 View Product On Supplier's Website Request a Quote from Cusabio. ... PRUNE1, PRUNE, DRES17, HTCD37, NMIHBA, DRES-17, H-PRUNE. View additional product information. Experiments from the literature. Reactivity. None Available. dr clay campbell arab alWeb128337365 (PRUNE1) Enzymes [BR:hcg01000] 3. Hydrolases 3.6 Acting on acid anhydrides 3.6.1 In phosphorus-containing anhydrides 3.6.1.11 exopolyphosphatase 128337365 (PRUNE1) BRITE hierarchy: Other DBs: NCBI-GeneID: 128337365: NCBI-ProteinID: XP_053134263: LinkDB: All DBs: Position: 14. AA seq: dr claydonWebHuman diseases caused by Prune1 mutations. The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. Human diseases associated with … energizing satisfying meal new worldWeb112411608 (PRUNE1) Enzymes [BR:nasi01000] 3. Hydrolases 3.6 Acting on acid anhydrides 3.6.1 In phosphorus-containing anhydrides 3.6.1.11 exopolyphosphatase 112411608 (PRUNE1) BRITE hierarchy: Other DBs: NCBI-GeneID: 112411608: NCBI-ProteinID: XP_024618586: LinkDB: All DBs: Position: Unknown. energizing morning sequence yoga with adriene