Description:
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A
PEROXISOME BIOGENESIS FACTOR 16; PEX16
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17380 [PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A] |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Gene |
PEX16 |
| Chromosomal Location |
11p11.2 |
| Allelic Variant 1 |
603360.0001; PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A |
| Identified Mutation |
R176Ter |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| South ST, Gould SJ, Peroxisome synthesis in the absence of preexisting peroxisomes. J Cell Biol144(2):255-66 1999 |
| PubMed ID: 9922452 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| Passage Frozen |
5 |
| Split Ratio |
1:5 |
| 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 |
- |
|
|