Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2639
MIM: 608801
HGNC: 4189
Ensembl: ENSG00000105607
Variants:
dbSNP: 2639
ClinVar: 2639
TCGA: ENSG00000105607
COSMIC: GCDH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36906724 | 2023 | Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review. | 1 |
| 37496092 | 2023 | Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China. | 1 |
| 36906724 | 2023 | Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review. | 1 |
| 37496092 | 2023 | Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China. | 1 |
| 35662016 | 2022 | Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. | 0 |
| 35662016 | 2022 | Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. | 0 |
| 33064266 | 2021 | Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. | 3 |
| 33965309 | 2021 | The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. | 14 |
| 33064266 | 2021 | Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. | 3 |
| 33965309 | 2021 | The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. | 14 |
| 31491587 | 2020 | Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance. | 4 |
| 32240488 | 2020 | Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. | 6 |
| 32992790 | 2020 | Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients. | 1 |
| 33069577 | 2020 | Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. | 14 |
| 31491587 | 2020 | Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance. | 4 |
Citation
Dessen P
GCDH (glutaryl-CoA dehydrogenase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63733/gcdh-(glutaryl-coa-dehydrogenase)
