GCDH Chromosome 19
Glutaryl-CoA dehydrogenase
Upload your DNA to see your personal genotypes for variants in GCDH.
What This Gene Does
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000105607
Associated Conditions (19)
Glutaric aciduria
type 1
Inborn genetic diseases
Hepatocellular carcinoma
Familial cancer of breast
GCDH-related disorder
Intellectual disability
Uterine corpus endometrial carcinoma
Malignant tumor of urinary bladder
Abnormality of metabolism/homeostasis
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
Congenital dyserythropoietic anemia type 4
BLOOD GROUP--LUTHERAN INHIBITOR
Colon adenocarcinoma
Primary ciliary dyskinesia 29
See cases
Glutaric acidaemia I newborn screening follow up
Tyrosinemia type III
Hypomyelinating leukodystrophy 2
Key Variants
RS1203022386
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS121434373
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS1247712895
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS1254396827
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS1265030225
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS138133019
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Inborn genetic diseases
Health Risk
RS139344943
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Inborn genetic diseases
Health Risk
RS141456457
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS1417389111
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS142553521
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Inborn genetic diseases
Health Risk
RS142806397
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Glutaric aciduria
Health Risk
RS143172809
Conflicting classifications of pathogenicity
Glutaric aciduria, type 1, Inborn genetic diseases
Health Risk
All Variants (299)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786204626 | Health Risk | Conflicting classifications of pathogenicity | Glutaric aciduria, type 1, Glutaric aciduria |
| RS886043840 | Health Risk | Conflicting classifications of pathogenicity | Glutaric aciduria, type 1, Glutaric aciduria |
| RS886054243 | Health Risk | Conflicting classifications of pathogenicity | Glutaric aciduria, type 1, Glutaric aciduria |
| RS952356983 | Health Risk | Conflicting classifications of pathogenicity | Glutaric aciduria, type 1, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 |
| RS1025558859 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1057516522 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1057516855 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1057516899 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1131691319 | Health Risk | Likely pathogenic | — |
| RS1177859298 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS121434368 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS121434370 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1230368107 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1252148225 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1302922191 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1333480915 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1367214521 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1405935475 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS142967670 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS149120354 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555749369 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555749927 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555750535 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555750542 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555750580 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555751109 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555751379 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1555751995 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1568427678 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1568429137 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1568429257 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1568429421 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1599619180 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970602621 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970671544 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970680774 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970694961 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970707032 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970710230 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970720537 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS1970723970 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS200785120 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS201714645 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2145944277 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2145953759 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2145954766 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2145955176 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2145955299 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2145959018 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |
| RS2512563404 | Health Risk | Likely pathogenic | Glutaric aciduria, type 1, Glutaric aciduria |