" /> GNPTG wt Allele - CISMeF





Preferred Label : GNPTG wt Allele;

NCIt synonyms : RJD9; GlcNAc-Phosphotransferase Gamma-Subunit Gene; GNPTAG; N-Acetylglucosamine-1-Phosphate Transferase Gamma Subunit Gene; N-Acetylglucosamine-1-Phosphotransferase, Gamma Subunit Gene; C16orf27; N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma wt Allele; Chromosome 16 Open Reading Frame 27 Gene; CAB56184; LP2537;

NCIt definition : Human GNPTG wild-type allele is located in the vicinity of 16p13.3 and is approximately 14 kb in length. This allele, which encodes N-acetylglucosamine-1-phosphotransferase subunit gamma, is involved in mannose 6-phosphate biosynthesis. Mutations in the gene are associated with mucolipidosis type III complementation group C (mucolipidosis III gamma) and increased susceptibility to persistent stuttering.;

NCI Metathesaurus CUI : CL1920865;

GenBank Accession Number : BC014592;

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28/07/2025


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