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453 Possible Causes for 55 kDa, DOA+, Drosophila, protein

Did you mean: 55 kDa, DOA, Drosophila, protein

  • Spinocerebellar Ataxia Type 12

    Processing i Molecule processing Feature key Position(s) Description Actions Graphical view Length Chain i PRO_0000071427 1 – 443 Serine/threonine-protein phosphatase 2A 55[uniprot.org] Boucher-Neuhauser-Syndrom 215470 (BNHS; PNPLA6 603197 ) CADASIL 125310 ( C erebrale a utosomal d ominante A rteriopathie mit s ubkortikalen I nfarkten und L eukoenzephalopathie; NOTCH3 600276 ) CAPOS-Syndrom[medizinische-genetik-dresden.de] […] of a human ppp2r2b and its Drosophila homolog tws.[ncbi.nlm.nih.gov] […] spots, which were confirmed as nine proteins by LC-MS/MS.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Progressive External Ophthalmoplegia

    POLG The mammalian mitochondrial polymerase γ is a 250-kDa heterotrimer composed of a 140-kDa catalytic α subunit (encoded by human POLG ) and two 55-kDa accessory β subunits[mdpi.com] Mutations of OPA1 result in autosomal Dominant Optic Atrophy (DOA), a common hereditary optic neuropathy characterized by retinal ganglion cell degeneration leading to optic[paduaresearch.cab.unipd.it] Proteins/biosynthesis Drosophila Proteins/genetics Drosophila Proteins/metabolism Drosophila melanogaster/enzymology* Drosophila melanogaster/genetics* Genes, Dominant* Humans[ncbi.nlm.nih.gov] SANDO, SCA8, T7 gp4-like protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase, TWINKLE, Twinkle protein, mitochondrial, TWINL Homo sapiens[ihop-net.org]

  • Autosomal Dominant Optic Atrophy

    Purpose: Progressive retinal ganglion cell (RGC) loss is the pathological hallmark of autosomal dominant optic atrophy (DOA) caused by pathogenic OPA1 mutations.[ncbi.nlm.nih.gov] Il gene OPA1 di Drosophila (dOPA1) mostra il 51.2% di similarità con il gene ortologo umano, l’allineamento della proteina umana con quella di Drosophila mostra che i domini[paduaresearch.cab.unipd.it] This protein also sequesters cytochrome c.[genecards.org] Progressive retinal ganglion cell (RGC) loss is the pathological hallmark of autosomal dominant optic atrophy (DOA) caused by pathogenic OPA1 mutations.[helda.helsinki.fi]

    Missing: 55 kDa
  • Coxsackie Virus

    Arrow points to CXADR (molecular weight 45-55 kDa)[bio-rad.com] Lymphoid and a non-Lymphoid cell SIGLEC6; Siglece; CD226; CLEC2B; TREML4; CD200R2; LILRA2; PVRL2L; KLRF1; SIGLEC11 Viral myocarditis RAC3; EIF4G2; HLA-F; HLA-G; CASP9; HLA-DOA[creativebiomart.net] […] mays) E. coli (Escherichia coli) filamentous fungi (Aspergillus nidulans) Firmicute bacteria (Streptococcus pneumoniae) fission yeast (Schizosaccharomyces pombe) fruit fly (Drosophila[genecards.org] [bsid125147] PodNet: protein-protein interactions in the podocyte PodNet: protein-protein interactions in the podocyte PodNet is a manually curated network of protein-protein[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy - Hearing Loss - Peripheral Neuropathy Syndrome

    Disease Type of connection Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Autosomal dominant optic atrophy, classic type Hereditary motor and sensory neuropathy type[csbg.cnb.csic.es] )): SALL1 antibodies SALL4 (Sal-Like 4 (Drosophila)): SALL4 antibodies SALL4 Proteins STIL (SCL/TAL1 Interrupting Locus): STIL antibodies SCRIB (Scribbled Homolog (Drosophila[antibodies-online.com] This protein also sequesters cytochrome c.[genecards.org] More Symptoms of Autosomal dominant optic atrophy plus syndrome » Types of Autosomal dominant optic atrophy plus syndrome Some types of this condition may include: 2 Types[familydiagnosis.com]

    Missing: 55 kDa
  • Autosomal Dominant Optic Atrophy and Cataract

    ADOAC means Autosomal Dominant Optic Atrophy and Cataract What is the abbreviation for Autosomal Dominant Optic Atrophy and Cataract?[acronymsandslang.com] Drosophila melanogaster; A.t. Arabidopsis thaliana; E.c. Escherichia coli FtsH protein ; SPG7: human paralog of AFG3L2).[frontiersin.org] Symbol Name Synonyms Organism OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) FLJ22187, FLJ25932, MGA3, MGC75494, Optic atrophy 3 protein Homo[ihop-net.org] […] expression level in amniotic fluid CleanEx i HS_OPA3 ExpressionAtlas i Q9H6K4 baseline and differential Genevisible i Q9H6K4 HS Organism-specific databases Interaction i Protein-protein[uniprot.org]

    Missing: 55 kDa
  • Oculocutaneous Albinism Type 4

    […] with PNGaseF generated a single strong 55 kDa band representing the fully deglycosylated form.[doi.org] Boucher-Neuhauser-Syndrom 215470 (BNHS; PNPLA6 603197 ) CADASIL 125310 ( C erebrale a utosomal d ominante A rteriopathie mit s ubkortikalen I nfarkten und L eukoenzephalopathie; NOTCH3 600276 ) CAPOS-Syndrom[medizinische-genetik-dresden.de] Graham et al. 1988 Characterization of a murine homeo box gene, Hox-2.6, related to the Drosophila Deformed gene.[google.de] Abstract Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary disorder caused by mutations in the Membrane-Associated Transporter Protein gene (SLC45A2[ncbi.nlm.nih.gov]

  • Optic Atrophy

    PURPOSE: The authors report the ophthalmic characteristics of a male proband in a Japanese family with autosomal dominant optic atrophy (DOA) harboring a frameshift mutation[ncbi.nlm.nih.gov] Studies on a model of OPA1 -mutant Drosophila showed increased production of reactive oxygen species and partial rescue of the clinical phenotype by treatment with anti-oxidants[academic.oup.com] Membrane Proteins Mitochondrial Proteins Muscle Proteins Phosphate Transport Proteins SLC25A46 protein, human Saccharomyces cerevisiae Proteins UGO1 protein, S cerevisiae[ncbi.nlm.nih.gov] Drosophila melanogaster; A.t. Arabidopsis thaliana; E.c. Escherichia coli FtsH protein ; SPG7: human paralog of AFG3L2).[journal.frontiersin.org]

    Missing: 55 kDa
  • Congenital Muscular Dystrophy Type 1C

    Detects a band of approximately 55 kDa (predicted molecular weight: 55 kDa).[abcam.com] dominant optic atrophy Autosomal recessive Emery-Dreifuss muscular dystrophy Autosomal recessive centronuclear myopathy Autosomal recessive limb-girdle muscular dystrophy[se-atlas.de] POMT1 also shows similarity to the Drosophila rotated abdomen gene, which when mutated causes defects in myogenesis and it is associated with limb-girdle muscular dystrophy[wikivisually.com] UniProt Q9H9S5 Other data Locus Chr. 19 q13.3 Fukutin-related protein ( FKRP ) is a protein associated with congenital muscular dystrophy . [1] See also [ edit ] Fukutin[en.wikipedia.org]

  • Mitochondrial DNA Depletion Syndrome

    The accessory subunit is a 55 kDa protein (p55) required for tight DNA binding and processive DNA synthesis ( Lim et al., 1999 ).[ncbi.nlm.nih.gov] dominant) optic atrophy 1 gene OPA1 FLJ12460 KIAA0567 LARGEG NPG NTG 605290 8140 ribonucleotide reductase regulatory TP53 inducible subunit M2B p53-inducible and ribonucleotide[ukgtn.nhs.uk] For information on experimental results using Drosophila models of this and related diseases see mitochondrial myopathy, SLC25A4(ANT1)-related ( FBhh0000372 ).[flybase.org] This signaling pathway remarkably involves the non-mitochondrial catalytic subunit of DNA-dependent protein kinase (PRKDC), important in double-strand break repair resistance[ncbi.nlm.nih.gov]