rs2548185752
This variant is located in the GNPTG gene.
▶ClinVar annotation
Likely Pathogenic★☆☆☆
1 submitter4 publicationsAbout GNPTG
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
View all GNPTG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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