NA17470
DNA from Fibroblast
Description:
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
ASHKENAZI
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
ACADS |
| Chromosomal Location |
12q22-qter |
| Allelic Variant 1 |
606885.0002; SCAD DEFICIENCY |
| Identified Mutation |
ARG107CYS; In a patient with SCAD deficiency, Naito et al. (1989, 1990) found evidence of compound heterozygosity. One chromosome 12 carried a C-to-T transition in nucleotide 319 which altered arg107 to cys. See 201470.0001 for the mutation on the other chromosome 12.
|
| |
| Gene |
ACADS |
| Chromosomal Location |
12q22-qter |
| Allelic Variant 2 |
606885.0002; SCAD DEFICIENCY |
| Identified Mutation |
ARG107CYS; In a patient with SCAD deficiency, Naito et al. (1989, 1990) found evidence of compound heterozygosity. One chromosome 12 carried a C-to-T transition in nucleotide 319 which altered arg107 to cys. See 201470.0001 for the mutation on the other chromosome 12.
|
| Remarks |
Clinically affected; developmental delay; hypotonia; no acute metabolic decompensation; consistently very elevated ethylmalonic acid levels in urine (>100); donor subject is homozygous for a C>T transition at nucleotide 319 of the ACADS gene [319C>T] resulting in a substitution of cysteine for arginine at codon 107 [Arg107Cys (R107C)]; exon counting and quantitative PCR have not been done to confirm homozygosity; This fibroblast is a characteristically poor grower. |
| dbSNP |
dbSNP ID: 15560 |
| Gene Cards |
ACADS |
| Gene Ontology |
GO:0004085 butyryl-CoA dehydrogenase activity |
|
GO:0005739 mitochondrion |
|
GO:0006091 energy pathways |
|
GO:0006118 electron transport |
|
GO:0006631 fatty acid metabolism |
|
GO:0006635 fatty acid beta-oxidation |
|
GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:35 |
| NCBI GTR |
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
|
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| OMIM |
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
|
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| Omim Description |
ACADS DEFICIENCY, INCLUDED |
| |
ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAINACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INCLUDED |
| |
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| |
LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED |
| |
SCAD DEFICIENCY, INCLUDED |
| |
SCADH DEFICIENCY, INCLUDED |
| |
SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD |
|
|