Glutaryl-CoA dehydrogenase (GCDH) Associated conditions: 1. Glutaric aciduria, type 1
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000159.4 | NP_000150.1 | NC_000019.10 | (12891128..12899998) | Reference GRCh38.p14 Primary Assembly | Q92947 |
| 2 | REVIEWED | NM_013976.5 | NP_039663.1 | NC_000019.10 | (12891128..12899998) | Reference GRCh38.p14 Primary Assembly | Q92947 |
| 3 | REVIEWED | NR_102316.1 | - | NC_000019.10 | (12891128..12899998) | Reference GRCh38.p14 Primary Assembly | Q92947 |
| 4 | REVIEWED | NR_102317.1 | - | NC_000019.10 | (12891128..12899998) | Reference GRCh38.p14 Primary Assembly | Q92947 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Glutaryl-CoA dehydrogenase (GCDH) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Glutaryl-CoA dehydrogenase (GCDH)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | enables | fatty-acyl-CoA binding | Function | 21873635 |
| 2 | Homo sapiens | IBA | enables | glutaryl-CoA dehydrogenase activity | Function | 21873635 |
| 3 | Homo sapiens | IDA | enables | glutaryl-CoA dehydrogenase activity | Function | 8541831 |
| 4 | Homo sapiens | IDA | located_in | mitochondrion | Component | - |
| 5 | Homo sapiens | TAS | located_in | mitochondrial matrix | Component | - |
| 6 | Homo sapiens | IEA | involved_in | tryptophan metabolic process | Process | - |
| 7 | Homo sapiens | IBA | involved_in | fatty acid beta-oxidation using acyl-CoA dehydrogenase | Process | 21873635 |
| 8 | Homo sapiens | IDA | involved_in | fatty acid beta-oxidation using acyl-CoA dehydrogenase | Process | 25416781 |
| 9 | Homo sapiens | IBA | involved_in | fatty-acyl-CoA biosynthetic process | Process | 21873635 |
| 10 | Homo sapiens | IBA | enables | flavin adenine dinucleotide binding | Function | 21873635 |