GNPTAB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GNPTAB wild-type allele is located in the vicinity of 12q23.2 and is approximately 85 kb in length. This allele, which encodes N-acetylglucosamine-1-phosphotransferase subunits alpha/beta protein, plays a role in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. Mutation of the gene is associated with inclusion-cell disease and mucolipidosis types 3A/3B.

**Synonyms:** - GNPTA - GlcNAc Phosphotransferase Gene - Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase Gene - ICD - N-Acetylglucosamine-1-Phosphate Transferase Alpha and Beta Subunits Gene - N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha and Beta wt Allele - N-Acetylglucosamine-1-Phosphate Transferase, Alpha and Beta Subunits Gene - N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta Subunits Gene - UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine Gene