Description:
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 1 |
N122D; VLCAD DEFICIENCY |
| Identified Mutation |
364A>G |
| |
| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 2 |
N122D; VLCAD DEFICIENCY |
| Identified Mutation |
364A>G |
| Remarks |
Clinically affected with severe cardiac form of VLCAD; cardiomyopathy and hypoglycemia in infancy; both parents are heterozygous for the mutation and not known to be consanguineous; donor subject is homozygous for an A>G transition at nucleotide 364 of the ACADVL gene resulting in an asparagine to aspartic acid change at codon 122 in the precursor protein [Asn122Asp (N122D)]; no other mutations were identified by amplification of all exons including intron/exon boundaries with subsequent sscp analysis |
| Raimo S, Zura-Miller G, Fezelinia H, Spruce LA, Zakopoulos I, Mohsen AW, Vockley J, Ischiropoulos H, Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders Redox biology41:101923 2021 |
| PubMed ID: 33725513 |
| dbSNP |
dbSNP ID: 15271 |
| Gene Cards |
ACADVL |
| Gene Ontology |
GO:0004466 long-chain-acyl-CoA dehydrogenase activity |
|
GO:0005739 mitochondrion |
|
GO:0006118 electron transport |
|
GO:0006631 fatty acid metabolism |
|
GO:0006635 fatty acid beta-oxidation |
|
GO:0015980 energy derivation by oxidation of organic compounds |
|
GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:37 |
| NCBI GTR |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
|
609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| OMIM |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
|
609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| Omim Description |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
| |
VLCAD DEFICIENCYACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, INCLUDED; ACADVL, INCLUDED |
| Passage Frozen |
6 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|