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4,433 Possible Causes for Gene, Phosphatase, Protein

Did you mean: Gene, Phosphatase, proteus

  • Lafora Disease

    The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420.[ncbi.nlm.nih.gov] Laforin contains a dual specificity phosphatase domain and a carbohydrate-binding module, and is a member of the recently described family of glucan phosphatases.[ncbi.nlm.nih.gov] Binary interactions i GO - Molecular function i identical protein binding Protein-protein interaction databases Structure i 3D structure databases Family & Domains i Phylogenomic[expasy.org]

  • Oculocerebrorenal Syndrome

    At least 20 mutations in the OCRL gene have been found to cause Dent disease 2.[ghr.nlm.nih.gov] Abstract Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking.[ncbi.nlm.nih.gov] protein).[ncbi.nlm.nih.gov]

  • Influenza

    […] into the human virus gene pool.[pubmedcentral.nih.gov] The bound antibodies were detected with an alkaline phosphatase-conjugated antibody against mouse (Sigma).[doi.org] Amplicons were prepared for sequencing by incubating them at 37  C for 60 min with 0.5 U of shrimp alkaline phosphatase (Amersham) and 1 U of exonuclease I (Amersham) to inactivate[dx.doi.org]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    DESIGN AND SETTING: Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[scholars.duke.edu] ; the father, high alkaline phosphatases.[ncbi.nlm.nih.gov] Pages: 1 NPT2C Polyclonal Antibody Gene Names: NPT2C ; SLC34A3; HHRH; NPTIIc Other Names: Sodium-dependent phosphate transport protein 2C; Sodium-phosphate transport protein[mybiosource.com]

  • LEOPARD Syndrome

    A missense mutation (836 G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome.[doi.org] phosphatase-independent roles.[ncbi.nlm.nih.gov] BACKGROUND: The ubiquitous non-receptor protein tyrosine phosphatase SHP2 (encoded by PTPN11) plays a key role in RAS/ERK signaling downstream of most, if not all growth factors[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    […] report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation in the KRAS gene[ncbi.nlm.nih.gov] All PTPN11 missense mutations cluster in interacting portions of the amino N-SH2 domain and the phosphotyrosine phosphatase domains, which are involved in switching the protein[ncbi.nlm.nih.gov] Genes included in the Noonan Syndrome and Related Disorders Multi-Gene Panel Gene Protein Inheritance Disease Association BRAF V-RAF murine sarcoma viral oncogene homolog[mayomedicallaboratories.com]

  • LEOPARD Syndrome

    A missense mutation (836-- G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome.[ncbi.nlm.nih.gov] phosphatase-independent roles.[ncbi.nlm.nih.gov] BACKGROUND: The ubiquitous non-receptor protein tyrosine phosphatase SHP2 (encoded by PTPN11) plays a key role in RAS/ERK signaling downstream of most, if not all growth factors[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease

    More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described.[ncbi.nlm.nih.gov] Abstract Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia).[ncbi.nlm.nih.gov] AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b ([ncbi.nlm.nih.gov]

  • Hypophosphatasia

    Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding[ncbi.nlm.nih.gov] The functions of alkaline phosphatase to bone development and mineralization were reviewed.[ncbi.nlm.nih.gov] We showed that the G232V protein sequestrates some of the wild-type protein into the cells and prevents it from reaching the membrane where it plays its physiological role[ncbi.nlm.nih.gov]

  • Osteoporosis

    Gene ontology enrichment analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were conducted.[ncbi.nlm.nih.gov] Biochemical markers, especially intact parathyroid hormone and bone-specific alkaline phosphatase, also may be helpful.[ncbi.nlm.nih.gov] A similar increase in risk was observed for animal protein, but no association was found for consumption of vegetable protein.[doi.org]