Enzyme glutaryl-CoA dehydrogeDifferentially expressed genesOMIMVariantsMITOCHONDRIALMetabolism-related genesMutationsPathwaysEncodesDiseasesInheritanceCopies of the geneEpilepsyPhenotypesExomeDeficiencyPanelsVariantAutosomalDiseaseDataSetsProteinExpressionSingle geneMutantDisordersHeterozygousIdentificationAnalysisInteractionDetailsLocation
Enzyme glutaryl-CoA dehydroge3
- Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. (medlineplus.gov)
- GA1 is an autosomal recessive disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene. (wikipedia.org)
- The GCDH gene encodes the enzyme glutaryl-CoA dehydrogenase. (wikipedia.org)
Differentially expressed genes2
- Additionally, we screened 739 differentially expressed genes (DEGs) between the C1 and C2. (biomedcentral.com)
- Herein, we screened differentially expressed genes between hepatocytes and untreated BMSCs to identify the genes responsible for the differentiation of BMSCs into hepatocytes. (aging-us.com)
OMIM1
- Genetic Heterogeneity of Alternating Hemiplegia of ChildhoodSee also AHC2 ( OMIM ), caused by mutation in the ATP1A3 gene ( OMIM ). (mendelian.co)
Variants6
- The role of HMT gene variants in prostate cancer remains unknown. (cancerindex.org)
- Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. (testcatalog.org)
- MCAD deficiency is caused by pathogenic variants in the medium-chain acyl-CoA dehydrogenase gene ( ACADM ). (medicover-genetics.com)
- If both partners are carriers of the same autosomal recessive disease, there is a 25% chance that they will pass on the pathogenic gene variants to their children in each pregnancy. (stcatherine.com)
- 11 heterozygous pathogenic/ likely pathogenic variants in eight PID genes were identified in 11 infants. (researchsquare.com)
- The results suggest that using GS may be a suitable method for screening newborns for variants in a large number of disease associated genes. (researchsquare.com)
MITOCHONDRIAL2
- Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). (nih.gov)
- See Targeted Genes and Methodology Details for Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies in Method Description for additional details. (testcatalog.org)
Metabolism-related genes1
- We downloaded Trp metabolism-related genes' expression data from different public databases, including TCGA, Gene Expression Omnibus (GEO) and Hepatocellular Carcinoma Database (HCCDB). (biomedcentral.com)
Mutations5
- Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. (medlineplus.gov)
- which means both copies of the gene in each cell have mutations. (medlineplus.gov)
- Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme with very low residual activity, or an enzyme with relatively high residual activity but still phenotypic consequences. (wikipedia.org)
- Effect of mutations in the glucocerebrosidase-1 gene on iPS cell-derived neurons from Parkinson´s disease patients. (fundacionareces.es)
- Mutations in the gene bone morphogenic protein receptor type 2 ( BMPR2 ) were reported as the most common genetic cause of PAH and have proven to be associated with long-term outcomes in IPAH, HPAH, and anorexigen-associated PAH [ 5 ]. (biomedcentral.com)
Pathways1
- What pathways are this gene/protein implicaed in? (cancerindex.org)
Encodes1
- This gene encodes a member of the trithorax group of transcriptional activators. (cancerindex.org)
Diseases1
- 61 Mendelian Diseases, 151 Primary Immunodeficiency Diseases(PID) and 5 DPWG recommeded Essential pharmacogenetic(PGx) genes were analyzed. (researchsquare.com)
Inheritance1
- A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (beds.ac.uk)
Copies of the gene1
- The condition is inherited in an autosomal recessive pattern: mutated copies of the gene GCDH must be provided by both parents to cause GA1. (wikipedia.org)
Epilepsy1
- Epilepsy, idiopathic generalized type 11 (sequence analysis of CLCN2 gene). (mendelian.co)
Phenotypes3
- Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. (nih.gov)
- We identified two metabolic phenotypes based on genes of the Trp metabolism pathway, and we established a risk model that could be used for predicting prognosis and guiding immunotherapy in patients with hepatocellular carcinoma. (biomedcentral.com)
- In this study, we used genes of the Trp metabolism pathway to identify stable metabolic phenotypes by consensus clustering. (biomedcentral.com)
Exome1
- Early onset dystonia exclusion criteria (29483) - Underlying cause for clinical syndrome identified, e.g. cerebral palsy, dopa-responsive dystonia, structural brain lesion, Wilson disease, psychogenic dystonia Prior genetic testing guidance (29483) - Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. (genomicsengland.co.uk)
Deficiency1
- It is thus important to investigate all cases of macrocephaly of unknown origins for GCDH deficiency, given the importance of the early diagnosis of GA1. (wikipedia.org)
Panels1
- For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. (questwomenshealth.com)
Variant2
- We totally identified 141 pathogenic variant loci of 129 genes in these 34 pSS-PAH patients, using WES analysis. (biomedcentral.com)
- All 321 newborns carried at least one variant at the five DPGW recommended PGx genes. (researchsquare.com)
Autosomal1
- The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
Disease3
- The candidate pathogenic genes may be the potential genetic markers for early warning of this disease. (biomedcentral.com)
- The Carrier Screening Panel is a 302-gene panel aimed at investigating the probability of transmission of a genetic disease from parents to children. (stcatherine.com)
- Different methods for identification of mutated genes, including Targeted Region Sequencing (TRS), ES and GS, is currently standard procedure in newborn children with a suspected disease. (researchsquare.com)
DataSets1
- Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Protein1
- What does this gene/protein do? (cancerindex.org)
Expression3
- GSE30419 gene microarray data of BMSCs and GSE72088 gene microarray data of primary hepatocytes were obtained from the Gene Expression Omnibus database. (aging-us.com)
- The expression of the hub genes in the BMSCs and hepatocytes was verified by reverse transcription-quantitative PCR (RT-qPCR). (aging-us.com)
- Direct comparison of the cell types were made to primary tissues using gene expression atlases and fetal human brain single-cell gene expression data, and this established that the cell types resembled early human brain cell types, including preplate cells. (uth.edu)
Single gene2
- Customization of this panel and single gene analysis for any gene present on this panel are available. (testcatalog.org)
- Please note that Quest offers a variety of single gene and gene panel testing. (questwomenshealth.com)
Mutant1
- Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed to predict the functional effect of mutant genes. (biomedcentral.com)
Disorders1
- FH, PH and RAS Kit analyzes 11, 11 and 30 genes and covers Familial Hypercholesterolemia (FH), Pulmonary Hypertension (PH) and RASopathy (RAS) related disorders, respectively. (medicover-genetics.com)
Heterozygous1
- Relatives of children with GA1 can have low GCDH activity: in an early study of GA1, GCDH activity was found to be 38%, 42%, and 42% in three of the four unaffected relatives tested, a pattern consistent with the 50% level that would be expected in heterozygous carriers. (wikipedia.org)
Identification1
- Han Y , He X , Lee S , Mao Y , Liu X , Sun H , Jin M , Kwon T , . Network analysis for the identification of hub genes and related molecules as potential biomarkers associated with the differentiation of bone marrow-derived stem cells into hepatocytes. (aging-us.com)
Analysis1
- Transcriptome Analysis Console software showed that 1896 genes were upregulated and 2506 were downregulated in hepatocytes as compared with BMSCs. (aging-us.com)
Interaction1
- Next, the target miRNAs of hub genes were predicted, and then the lncRNAs regulating miRNAs was discovered, thus forming the lncRNA-miRNA-mRNA interaction chain. (aging-us.com)
Details1
- Mouse over or click genes or lines for details. (ucsc.edu)
Location1
- The main module page also shows the location of these motifs within the upstream sequences of the module member genes. (systemsbiology.net)