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90 Possible Causes for GPI, deacylase,, human

  • Hyperphosphatasia - Intellectual Disability Syndrome

    PGAP1 is a deacylase that removes an acyl-chain from the inositol of GPI anchors in the endoplasmic reticulum immediately after attachment of GPI to proteins.[] […] of metabolism Congenital disorders of lipid/glycolipid metabolism H01488 Hyperphosphatasia with mental retardation syndrome Pathway hsa00563 Glycosylphosphatidylinositol (GPI[] Gonzaga-Jauregui C, Lupski JR, Gibbs RA (2012) Human genome sequencing in health and disease.[]

  • Hyperphosphatasia with Mental Retardation Syndrome 3

    MPPE1 family (396 aa) 0.766 PGAP1 GPI inositol-deacylase; Involved in inositol deacylation of GPI-anchored proteins.[] Secretion of ALP required GPI transamidase that cleaves the C-terminal GPI attachment signal peptide and replaces it with GPI.[] PMID 23561846, Free PMC Article Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in[]

  • Farber Disease

    […] extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase Acid Ceramidase Deficiency Farber Disease N-LAURYLSPHINGOSINE DEACYLASE[] 7p15-p13 Familiäre hyperinsulinämische Hypoglykämie 3 (HHF3) Hexokinase IV (Glucokinase) HK4 7p15-p13 Glucose-6-phosphat-Isomerase-Defizienz Glucose-6-phosphat-Isomerase GPI[] Our results show that human AC gene consists of 14 exons and 13 introns spanning approximately 26.5 kb of genomic DNA.[]

  • Trypanosoma Cruzi

    […] plasma membrane remodeling that is expected during trypomastigote to amastigote differentiation, we also observe significantly increased transcript levels for GPI-inositol deacylase[] In the GPI analysis one SNP discriminated Tcbat from TcI, while another SNP distinguished TcI from TcIII.[] The database described here was compiled to allow the risk of vectorial transmission to humans to be mapped using geospatial models.[]

  • Factor IX

    Preparation of fluorescence-labeled GM1 and sphingomyelin by the reverse hydrolysis reaction of sphingolipid ceramide N-deacylase as substrates for assay of sphingolipid-degrading[] Markers for lipid rafts, such as caveolin-1 and a GPI anchored protein, co-localized with CTxB.[] INTRODUCTION: Post-translational modifications of the CHO-cell-derived-recombinant human factor IX (FIX) currently used for the treatment of hemophilia B (HB) are different[]

  • Antineoplastic Agent

    The regulation of gene expression and inhibition of histone deacylases are regulated by NaB [ 39 ].[] […] patent/EP0393575B1/de 2010-04-17 Anticipated expiration legal-status Critical 2019-01-30 Application status is Expired - Lifetime legal-status Critical Links Espacenet EPO GPI[] Abstract Effects of the antineoplastic agent paclitaxel (Taxol) were studied on contractions of isolated human saphenous vein (HSV) and mammary artery (HMA).[]

  • Salmonella

    SseJ deacylase activity by Salmonella enterica serovar Typhimurium promotes virulence in mice . Infect. Immun. 73 , 6249–6259 (2005). 181. Harrison, R. E. et al.[] Evidence for human infection with an HTLV III/LAV-like virus in Central Africa, 1959 . Lancet 1 , 1279–1280 (1986). 31. Sharp, E.R. et al.[] […] disease is in part an epidemic in sub-Saharan Africa caused by highly related Salmonella Typhimurium lineages that may have occupied new niches associated with a compromised human[]

  • Sarcosinemia

    […] isovaleric Aciduria, ketoadipic Alaninemia Alpha ketoadipic aciduria Aminomethyltransferase deficiency Aromatic amino acid decarboxylase deficiency Beta-hydroxyisobutyryl-CoA deacylase[] TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI[] The adult human liver clone is assembled from 21 exons (1-6, 7a, 8a, 9-21).[]

  • Iminoglycinuria

    […] isovaleric Aciduria, ketoadipic Alaninemia Alpha ketoadipic aciduria Aminomethyltransferase deficiency Aromatic amino acid decarboxylase deficiency Beta-hydroxyisobutyryl-CoA deacylase[] NDUFAF2, KIF1B, PANK2, OPA3, MECP2, COQ9, PDSS2, PDSS1, COQ6, ACO2, NDUFA12, HARS, NDUFB3, NDUFA9, COX14, ALDH18A1, PDHB, TMEM70, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, GPI[] Human SLC36A2 , SLC6A20 , and SLC6A18 were amplified by RT-PCR from human kidney RNA (BD Biosciences).[]

  • Atypical HSD10 Disease

    Clinical Terms Synonyms: • 5-Oxoprolinase deficiency • Abnormal amino acid sequence • Alaninemia • Aromatic amino acid decarboxylase deficiency • Beta-hydroxyisobutyryl-CoA deacylase[] PIGM Synonym(s): GPI-MT-I The PIGM gene currently has no well-established disease association, however, there is preliminary evidence supporting a correlation with autosomal[] Datasheet Description Recombinant Human HSD17B10 / CAMR was expressed from HEK293. Its molecular weight is 28KD.[]