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28 Possible Causes for binding, syntaxin 13

  • Hermansky-Pudlak Syndrome Type 9

    -13.[ncbi.nlm.nih.gov] Snowboards Snowboard Bindings Snowboard Boots Snowshoes Snowshoes Nordic Nordic Skis Poles Nordic Bindings Boots Apparel Accessories Service GURU Fit System Bicycle Service[petesgarage.com] Oncol. (2006) [ Pubmed ] Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins.[wikigenes.org]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    RNAi-knockdown of VIPAS39 in HEK293 cells affects the morphology and sorting of RAB11 (see OMIM:605570 )- and syntaxin-13 (STX13, or STX12, OMIM:606892 )-positive recycling[flybase.org] Electrophoretic mobility shift assays suggest that this regulation occurs through direct binding of vHnf1 to the vps33b promoter.[ncbi.nlm.nih.gov] Urban D, Li L, Christensen H, Pluthero FG, Chen SZ, Puhacz M, Garg PM, Lanka KK, Cummings JJ, Kramer H, Wasmuth JD, Parkinson J, Kahr WH: The VPS33B-binding protein VPS16B[springermedizin.de]

  • Neurogenic Arthrogryposis Multiplex Congenita

    RNAi-knockdown of VIPAS39 in HEK293 cells affects the morphology and sorting of RAB11 (see OMIM:605570 )- and syntaxin-13 (STX13, or STX12, OMIM:606892 )-positive recycling[flybase.org] These help bind together the fibers, cells, and ground substance of connective tissue and they may also help components of the tissue bind to inorganic substances, such as[wikivisually.com] […] endosomes and RAB7 ( OMIM:602298 )-, syntaxin-7 (STX7; OMIM:603217 ), and syntaxin-8 (STX8; OMIM:604203 )-positive late endosomes.[flybase.org]

  • Familial Hemophagocytic Lymphohistiocytosis

    Disease-causing mutations have been found in perforin, Munc 13-4 and syntaxin-11 genes.[ncbi.nlm.nih.gov] STXBP2 encodes syntaxin binding protein 2 (Munc18-2), involved in the regulation of vesicle transport to the plasma membrane.[ncbi.nlm.nih.gov] Trends Cell Biol. 13 :177-186. Misura, K.M., Scheller, R.H., Weis, W.I. 2000. Three-dimensional structure of the neuronal-Sec1-syntaxin 1a complex. Nature. 404 :355-362.[jci.org]

  • Pseudohypoparathyroidism Type 1A

    AD-PHP-Ib is typically characterized by an isolated loss of methylation at exon A/B, associated with microdeletions in the STX16 gene, encoding syntaxin 16, 220 kb upstream[journals.plos.org] Molecular genetic analyses or biochemical screening for stimulatory guanine nucleotide binding protein defects should be performed.[ncbi.nlm.nih.gov] The stimulating guanine nucleotide-binding protein (Ns) activity of the erythrocytes was reduced to 66.9%.[ncbi.nlm.nih.gov]

  • Primary CD59 Deficiency

    -D deficiency Syntaxin 11 deficiency X-linked lymphoproliferative syndrome XLP1 XLP2 Syndromes with autoimmunity ALPS CD95 (Fas) defects, ALPS type 1a CD95L (Fas ligand) defects[ipidnet.org] CD21 binds to antigens via attached C3d while membrane Ig binds to the antigen.[emedicine.medscape.com] -Antistof binding til toksiner, molekyler på overfladen af vira/bakterier, forhindrer deres binding til cellulære receptorer.[quizlet.com]

  • Pseudohypoparathyroidism

    AD-PHP-Ib is typically characterized by an isolated loss of methylation at exon A/B, associated with microdeletions in the STX16 gene, encoding syntaxin 16, 220 kb upstream[journals.plos.org] […] of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an isolated loss of methylation at the guanine nucleotide-binding[ncbi.nlm.nih.gov] PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is known to utilize the G protein pathway.[ncbi.nlm.nih.gov]

  • Ring Chromosome 15

    13-interacting protein) [PA] [PLDN] BMF 15q14 Q96LC9 BMF_HUMAN 606266 Bcl-2-modifying factor BNC1 15q25.2 Q01954 BNC1_HUMAN 601930 Zinc finger protein basonuclin-1 [BNC][uniprot.org] 3 levels increased from 2.6 to 3.8 mg/l, whereas high binding protein 1 concentrations normalised from 52.0 to 16.7 micrograms/l.[ncbi.nlm.nih.gov] In vitro binding of radiolabelled IGF-I to the patient's fibroblasts was less than that bound by control fibroblasts (patient, 0.69% binding by 248 000 cells, vs. 1.41% binding[ncbi.nlm.nih.gov]

  • GRN-Related Frontotemporal Dementia with TDP43 Inclusions

    Lu Y, Zhang Z, Sun D, Sweeney ST, Gao FB (2013) Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation.[omicsonline.org] I specifically identified the microtubule-binding protein MAP6 as interaction partner and was able to validate binding.[edoc.ub.uni-muenchen.de] TDP-43 and FUS are normally localized in the nucleus, where they bind DNA/RNA and regulate transcription and RNA splicing.[biochemie.abi.med.uni-muenchen.de]

  • Immunodeficiency due to Defective Expression of HLA Class 1

    SYNTAXIN-11 by western blot help significantly in diagnosis of genetic HLH.[indianpediatrics.net] Interestingly, they were also observed in the uninduced class II-negative fibroblastic cells, which have also been shown to have a normal RF-X binding pattern.[archive-ouverte.unige.ch] Human cytomegalovirus binding to DC-SIGN is required for dendritic cell infection and target cell trans-infection. Immunity 17, 653 –664.[jgv.microbiologyresearch.org]

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