NA13263
DNA from Fibroblast
Description:
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4
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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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Biopsy Source
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Unspecified
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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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Sample Source
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DNA from Fibroblast
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Race
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Black/African American
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
19 |
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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 |
HSD17B4 |
| Chromosomal Location |
5q2 |
| Allelic Variant 1 |
; D-BIFUNCTIONAL PROTEIN DEFICIENCY |
| Identified Mutation |
422del2 |
| |
| Gene |
HSD17B4 |
| Chromosomal Location |
5q2 |
| Allelic Variant 2 |
; D-BIFUNCTIONAL PROTEIN DEFICIENCY |
| Identified Mutation |
422del2 |
| Remarks |
Hypotonia; seizures; macrocephalic; expired at age 5 months; deficient peroxisomal B-oxidation in fibroblasts; slightly abnormal phytanic acid oxidation in fibroblasts; elevated levels of trihydroxycholestanoic acid (THCA) in plasma; donor subject is homozygous for a deletion of 2 bp at position 422_423 of the HSD17B4 (D-BP) gene cDNA causing a frameshift leading to a premature stop codon at position 490, which results in a shortened product of 163 amino acids; the inactive protein lacks the catalytic aa tyrosine and lysine in the NYSAAK-motif characteristics of the short-chain-alcohol dehydrogenase gene family |
| van Grunsven EG, van Berkel E, Mooijer PA, Watkins PA, Moser HW, Suzuki Y, Jiang LL, Hashimoto T, Hoefler G, Adamski J, Wanders RJ, Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am J Hum Genet64(1):99-107 1999 |
| PubMed ID: 9915948 |
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| McGuinness MC, Moser AB, Poll-The BT, Watkins PA, Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation. Biochem Med Metab Biol49:228-42 1993 |
| PubMed ID: 8484962 |
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| Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al, Peroxisomal bifunctional enzyme deficiency. J Clin Invest83:771-7 1989 |
| PubMed ID: 2921319 |
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