| Type | Description |
|---|---|
| Definition | acyl-CoA dehydrogenase very long chain |
| Date | Results | Publications |
|---|---|---|
| 2020-09-26 13:06:00 | One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency. | 31794763 |
| 2020-08-01 11:26:00 | homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy | 30840296 |
| 2019-11-09 12:26:00 | Sequencing of the ACADVL gene revealed that all individuals with activities below 24% were true Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) patients, individuals with residual activities between 24 and 27% carried either one or two mutations. Twenty new mutations could be identified and functionally classified based on their effect on enzyme function. | 30194637 |
| 2019-09-28 10:11:00 | The authors provide novel insights into the cellular energy household of cells from HADHA/ACADVL patients and demonstrate for the first time a connection between fatty acid metabolism, mitochondrial morphology and reactive oxygen species in patients with these rare genetic disorders. | 29459657 |
| 2019-08-24 12:16:00 | VLCADD is relatively rare in southern China, for which late-onset form is common | 30950014 |
| Type | IDs |
|---|---|
| Synonymous | ACAD6, LCACD, VLCAD |
| Gene |
UniProtKB-ID:
ACADV_HUMAN,
B3KPA6_HUMAN
UniprotKB:
P49748,
B3KPA6
UniParc:
UPI0002064F84,
UPI0000EE6441,
UPI00001251EF,
UPI000006EEE8
EMBL:
BC000399,
D78298,
BC020218,
D43682,
AK056083,
CH471108,
X86556,
AK293549,
BC012912,
L46590,
AC120057
Ensembl:
ENSG00000072778
KO:
hsa:37
|
| Nucleutide sequences |
EMBL-CDS:
AAH20218.1,
AAH12912.1,
BAG57027.1,
AAH00399.1,
AAA79002.1,
CAA60253.1,
BAA07781.1,
BAA29057.1,
EAW90250.1,
BAG51618.1
Gene_ORFName:
hCG_42007
Ensembl_TRS:
ENST00000356839,
ENST00000350303,
ENST00000543245
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000438689,
ENSP00000349297,
ENSP00000344152
RefSeq:
XP_011522132.1,
NP_001257377.1,
NP_001029031.1,
XP_024306509.1,
NP_001257376.1,
XP_006721579.2,
NP_000009.1,
XP_011522131.1
|
| Others |
UniRef100:
UniRef100_P49748,
UniRef100_B3KPA6
UniRef90:
UniRef90_P49748
UniRef50:
UniRef50_P49748
UniGene:
Hs.437178
CCDS:
CCDS11090.1,
CCDS42249.1,
CCDS58509.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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