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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
Common variable immunodeficiency; Specialty: Immunology : Symptoms: Hypogammaglobulinemia, recurrent opportunistic infections, fatigue: Complications: Autoimmune manifestations; increased risk of malignancies such as gastric carcinomas, non-Hodgkin lymphoma; lymphocytic infiltration of tissues; nodular regenerative hyperplasia; enteropathy
Virulence factors (preferably known as pathogenicity factors or effectors in botany) are cellular structures, molecules and regulatory systems that enable microbial pathogens (bacteria, viruses, fungi, and protozoa) to achieve the following: [1] [2] colonization of a niche in the host (this includes movement towards and attachment to host cells ...
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Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. [1] [3] It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of variant. [3]
Reversion or allelic replacement of the mutated gene should lead to restoration of pathogenicity." To apply the molecular Koch's postulates to human diseases, researchers must identify which microbial genes are potentially responsible for symptoms of pathogenicity, often by sequencing the full genome to compare which nucleotides are homologous ...
4524 17769 Ensembl ENSG00000177000 ENSMUSG00000029009 UniProt P42898 Q9WU20 RefSeq (mRNA) NM_005957 NM_001330358 NM_001161798 NM_010840 RefSeq (protein) NP_001317287 NP_005948 NP_001155270 NP_034970 Location (UCSC) Chr 1: 11.79 – 11.81 Mb Chr 4: 148.12 – 148.14 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme ...
The pathogenicity of an organism—its ability to cause disease—is determined by its virulence factors. [2] [3] In the specific context of gene for gene systems, often in plants, virulence refers to a pathogen's ability to infect a resistant host. [4] Virulence can also be transferred using a plasmid.