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56 Possible Causes for Drosophila, Edc3, protein

Did you mean: Drosophila, Edc3, proteus

  • Neuronal Ceroid Lipofuscinosis

    Other mammalian ortholog(s) used D. melanogaster Gene Information (1) Comments on ortholog(s) High-scoring ortholog of human CLN3 (1 Drosophila to 1 human).[flybase.org] To gain insight into the function of CLN8 protein, we employed the split-ubiquitin membrane-based yeast two-hybrid (MYTH) system, which detects protein-protein interactions[ncbi.nlm.nih.gov] DNAJC19, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DUSP6, DYNC1H1, DYRK1A, EARS2, EBP, ECE1, ECHS1, ECM1, EDC3[genedx.com]

  • Autosomal Recessive Non-Syndromic Intellectual Disability

    Our study reveals OHGT as a novel regulator of insulin-dependent organismic growth in Drosophila.[flybase.org] , encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ( 18387594 ) Noor A....Ayub M. 2008 12 A defect in[malacards.org] ) DNST1 [HSA: 3340 ] [KO: K02576 ] (MRT47) FMN2 [HSA: 56776 ] [KO: K02184 ] (MRT48) SLC6A17 [HSA: 388662 ] [KO: K05048 ] (MRT49) GPT2 [HSA: 84706 ] [KO: K00814 ] (MRT50) EDC3[genome.jp]

  • Deafness, Autosomal Dominant 23

    […] autosomal dominant 23 by Medical dictionary (redirected from deafness, autosomal dominant 23 ) SIX1 A gene on chromosome 14q23.1 that encodes a homeobox protein similar to the Drosophila[medical-dictionary.thefreedictionary.com] […] encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product.[genecards.org] Arthrogryposis, distal, type 5D 615065 605896 Autosomal recessive ECHS1 10q26.3 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 602292 Autosomal recessive EDC3[mnglabs.com]

  • Autosomal Dominant Spastic Paraplegia 33

    Normal Drosophila display a strong negative geotactic response.[jci.org] (PMID: 12676568) Ciccarelli FD … Crosby AH (Genomics 2003) 3 4 22 60 SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis[genecards.org] Arthrogryposis, distal, type 5D 615065 605896 Autosomal recessive ECHS1 10q26.3 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 602292 Autosomal recessive EDC3[mnglabs.com]

  • Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

    D17S1873 D17S799 Zmax 2.46; θ 0.00 34 Mutation in COX10 Gene nt 612 nt 612 G C A C A A A T K C C S G C C A A A T C C C GC C A A C T C A N S C Patient 1 Father Control Yeast Drosophila[docplayer.net] […] of the 70-kD protein suggest a more generalized abnormality of the synthesis, import, processing, or assembly of a group of proteins containing iron-sulfur clusters.[jci.org] Arthrogryposis, distal, type 5D 615065 605896 Autosomal recessive ECHS1 10q26.3 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 602292 Autosomal recessive EDC3[mnglabs.com]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    […] genetic resource of mutants to study mechanisms underlying human genetic diseases Drosophila Models of Human Diseases - a blog about Drosophila disease models Drosophila[sdbonline.org] The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.[genecards.org] DNAJC19, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DUSP6, DYNC1H1, DYRK1A, EARS2, EBP, ECE1, ECHS1, ECM1, EDC3[genedx.com]

  • Autosomal Recessive Mental Retardation 5

    Arg617 is absolutely conserved across all MED23 orthologs from Xenopus to Drosophila and human.[omim.org] Aliases for NSUN2 Gene NOP2/Sun RNA Methyltransferase Family Member 2 2 3 5 Myc-Induced SUN-Domain-Containing Protein 2 3 Myc-Induced SUN Domain-Containing Protein 3 4 NOL1[genecards.org] ) DNST1 [HSA: 3340 ] [KO: K02576 ] (MRT47) FMN2 [HSA: 56776 ] [KO: K02184 ] (MRT48) SLC6A17 [HSA: 388662 ] [KO: K05048 ] (MRT49) GPT2 [HSA: 84706 ] [KO: K00814 ] (MRT50) EDC3[genome.jp]

  • Autosomal Recessive Mental Retardation 31

    Epigenetic regulation of learning & memory by Drosophila EHMT/G9a.[ngfn.de] Quantification of mRNA and protein expression suggests that nonsense-mediated mRNA decay also contributes to the loss of FBXO31 protein in affected individuals.[link.springer.com] ) DNST1 [HSA: 3340 ] [KO: K02576 ] (MRT47) FMN2 [HSA: 56776 ] [KO: K02184 ] (MRT48) SLC6A17 [HSA: 388662 ] [KO: K05048 ] (MRT49) GPT2 [HSA: 84706 ] [KO: K00814 ] (MRT50) EDC3[genome.jp]

  • Autosomal Recessive Spastic Paraplegia Type 20

    [Date last reviewed: 2019-03-14] Comments on ortholog(s) High-scoring ortholog of human SPART (1 Drosophila to 1 human).[flybase.org] (PMID: 12676568) Ciccarelli FD … Crosby AH (Genomics 2003) 3 4 22 60 SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis[genecards.org] Arthrogryposis, distal, type 5D 615065 605896 Autosomal recessive ECHS1 10q26.3 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 602292 Autosomal recessive EDC3[mnglabs.com]

  • Autosomal Recessive Mental Retardation 44

    Because mutations in the adenylate cyclase-cAMP system may affect the learning ability of Drosophila flies, we assessed mental deficiency in 25 patients whose Ns-protein activity[annals.org] Nomenclature HGNC (Hugo) GSE1 28979 Cards Entrez_Gene (NCBI) GSE1 23199 Gse1 coiled-coil protein AliasesCRHSP24; KIAA0182 GeneCards (Weizmann) GSE1 Ensembl hg19 (Hinxton)[atlasgeneticsoncology.org] ) DNST1 [HSA: 3340 ] [KO: K02576 ] (MRT47) FMN2 [HSA: 56776 ] [KO: K02184 ] (MRT48) SLC6A17 [HSA: 388662 ] [KO: K05048 ] (MRT49) GPT2 [HSA: 84706 ] [KO: K00814 ] (MRT50) EDC3[genome.jp]