NA06231
DNA from Fibroblast
Description:
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A
PEROXISOME BIOGENESIS FACTOR 16; PEX16
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17380 [PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A] |
| Quantity |
0.050mg |
| 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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Race
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White
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Gene |
PEX16 |
| Chromosomal Location |
11p11.2 |
| Allelic Variant 1 |
603360.0001; PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A |
| Identified Mutation |
R176Ter |
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| Gene |
PEX16 |
| Chromosomal Location |
11p11.2 |
| Allelic Variant 2 |
603360.0001; PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A |
| Identified Mutation |
R176Ter |
| Remarks |
PEX16-defective complementation group 9; consanguineous parents; similarly affected sib; muscle hypotonia, craniofacial dysmorphia, ventricular septal defect, glossoptosis, cataracts, hepatomegaly with jaundice and elevated SGOT and SGPT, and elevated CSF protein; 46,XX |
| Aranovich A, Hua R, Rutenberg AD, Kim PK, PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER Journal of cell science127:3675-86 2014 |
| PubMed ID: 25002403 |
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| Brocard CB, Boucher KK, Jedeszko C, Kim PK, Walton PA, Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis Traffic (Copenhagen, Denmark)6:386-95 2005 |
| PubMed ID: 15813749 |
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| Matsumoto N, Tamura S, Fujiki Y, The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to
peroxisomes. Nat Cell Biol5(5):454-60 2003 |
| PubMed ID: 12717447 |
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| South ST, Gould SJ, Peroxisome synthesis in the absence of preexisting peroxisomes. J Cell Biol144(2):255-66 1999 |
| PubMed ID: 9922452 |
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| Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y, Mutation in PEX16 is causal in the peroxisome-deficient zellweger syndrome of complementation group D [In Process Citation] Am J Hum Genet63:1622-30 1998 |
| PubMed ID: 9837814 |
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| Steinberg SJ, Fensom AH, Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder. J Med Genet33:295-9 1996 |
| PubMed ID: 8730284 |
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| Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW, Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet88:491-9 1992 |
| PubMed ID: 1372585 |
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| Rizzo WB, Dammann AL, Craft DA, Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest81:738-44 1988 |
| PubMed ID: 3343337 |
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