NA18365
DNA from Fibroblast
Description:
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
ACYL-COA OXIDASE 1, PALMITOYL; ACOX1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Family Member
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1
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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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| PDL at Freeze |
5.14 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ACOX |
| Chromosomal Location |
17q25 |
| Allelic Variant 1 |
stop codon at beginning of exon 8; PSEUDONEONATAL ADRENOLEUKODYSTROPHY |
| Identified Mutation |
1 KB DEL (EX 7) |
| Remarks |
Clinically affected; post-natally progressive spastic cerebral palsy and decreased vision and hearing; has a vocabulary of about 50 words but level of consciousness and development appear to be regressing; C26:0 ug/mg protein and the C26/22 ratio are higher than normal; donor subject has a microdeletion of approximately 1 kb which includes exon 7 of the ACOX Gene, resulting in a frameshift and the creation of a stop codon at the beginning of exon 8 |
| dbSNP |
dbSNP ID: 19820 |
| Gene Cards |
ACOX |
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ACOX1 |
| Gene Ontology |
GO:0003997 acyl-CoA oxidase activity |
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GO:0005777 peroxisome |
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GO:0006091 energy pathways |
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GO:0006118 electron transport |
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GO:0006635 fatty acid beta-oxidation |
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GO:0006693 prostaglandin metabolism |
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GO:0009053 electron donor activity |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:51 |
| NCBI GTR |
264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
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609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1 |
| OMIM |
264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
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609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1 |
| Omim Description |
ACYL-CoA OXIDASE, INCLUDED; ACOX, INCLUDED |
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ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL, INCLUDED |
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ADRENOLEUKODYSTROPHY, PSEUDONEONATALACYL-COENZYME A OXIDASE 1, PALMITOYL, INCLUDED; ACOX1, INCLUDED |
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PALMITOYL-CoA OXIDASE, INCLUDED |
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PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
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PSEUDONEONATAL ADRENOLEUKODYSTROPHY |
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