Article
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Gene - 10 Feb 2014
Liu Shuang, Zhang Weimin, Shi Huiping, Meng Yan, Qiu Zhengqing
Abstract excerpt
BACKGROUND: Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hydrolases to the lysosome. METHODS: Three Chinese children with typical skeletal abnormalities of MLIII were...
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