| Type | Description |
|---|---|
| Definition | glutaryl-CoA dehydrogenase |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:24:00 | 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. | 32992790 |
| 2020-07-18 11:02:00 | Homozygous pathogenic missense variant in GCDH gene is associated with glutaric aciduria, type I. | 30203563 |
| 2020-03-07 10:25:00 | We provide a rationale for the possible interallelic complementation observed in heterozygous Glutaric Aciduria Type I patients based on the fact that in GCDH, the low active p.Arg227Pro variant contributes to stabilize the tetramer while the structurally unstable p.Val400Met variant compensates for enzyme activity. | 31491587 |
| 2019-09-28 12:04:00 | The GCDH gene variant probably underliee the glutaric aciduria type I | 31515781 |
| 2019-07-06 12:01:00 | mutational analysis of variants in the GCDH gene in Chinese families affected with glutaric acidemia type 1 | 30512148 |
| Type | IDs |
|---|---|
| Synonymous | ACAD5, GCD |
| Gene |
UniProtKB-ID:
GCDH_HUMAN,
A0A024R7F9_HUMAN
UniprotKB:
Q92947,
A0A024R7F9
UniParc:
UPI000012B292,
UPI000002AA48
EMBL:
AF012340,
U69141,
AF012341,
CH471106,
AF012339,
BT006706,
AF012342,
AD000092,
BC002579,
AK290407
Ensembl:
ENSG00000105607
KO:
hsa:2639
|
| Nucleutide sequences |
EMBL-CDS:
AAH02579.1,
BAF83096.1,
AAB08455.1,
AAP35352.1,
AAC52079.1,
AAB51174.1,
EAW84324.1,
EAW84326.1
Gene_ORFName:
hCG_172482
Ensembl_TRS:
ENST00000222214,
ENST00000591470
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000222214,
ENSP00000466845
RefSeq:
NP_039663.1,
NP_000150.1
|
| Others |
UniRef100:
UniRef100_Q92947
UniRef90:
UniRef90_Q92947
UniRef50:
UniRef50_Q92947
UniGene:
Hs.532699
CCDS:
CCDS12286.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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