Description:
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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ASHKENAZI
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
15 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| 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.
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| 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.
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| 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 |
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GO:0005739 mitochondrion |
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GO:0006091 energy pathways |
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GO:0006118 electron transport |
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GO:0006631 fatty acid metabolism |
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GO:0006635 fatty acid beta-oxidation |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:35 |
| NCBI GTR |
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
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606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| OMIM |
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
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606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
| Omim Description |
ACADS DEFICIENCY, INCLUDED |
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ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAINACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INCLUDED |
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ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS |
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LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASEDEFICIENCY, INCLUDED |
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SCAD DEFICIENCY, INCLUDED |
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SCADH DEFICIENCY, INCLUDED |
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SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD |
| Passage Frozen |
15 |
| Split Ratio |
1:2 |
| 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 |
- |
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