Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.
作者： Jutta Gärtner , Hugo Moser , David Valle
DOI: 10.1038/NG0492-16
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摘要: The peroxisomal membrane protein, with a relative molecular mass of 70,000 (Mr 70K) (PMP70), is an important component membranes and ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), inborn error peroxisome assembly, we cloned sequenced cDNAs for human PMP70 mapped the gene to chromosome 1. Amongst 32 probands ZS or related disorders, found two mutant alleles single from same complementation group. One allele has donor splice site mutation second missense mutation. Our results suggest that plays role biogenesis mutations may be responsible subset patients.
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