A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human complementary DNA has been cloned that complements the disease's symptoms (including defective peroxisome assembly) in fibroblasts from a patient with Zellweger syndrome. The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1. The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation.
Shimozawa
N
N
Department of Pediatrics, Gifu University School of Medicine, Japan.
Tsukamoto
T
T
Suzuki
Y
Y
Orii
T
T
Shirayoshi
Y
Y
Mori
T
T
Fujiki
Y
Y
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D006224:Cricetinae; D004252:DNA Mutational Analysis; D005796:Genes; D005816:Genetic Complementation Test; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008830:Microbodies / Q000648:ultrastructure*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D010375:Pedigree; D000074428:Peroxisomal Biogenesis Factor 2; D016133:Polymerase Chain Reaction; D014162:Transfection; D015211:Zellweger Syndrome / Q000235:genetics*
D008565:Membrane Proteins; D009838:Oligodeoxyribonucleotides; D000074428:Peroxisomal Biogenesis Factor 2