Genetic Test
GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta) encodes N-acetylglucosamine-1-phosphotransferase, which is involved in the proper trafficking and distribution of various lysosomal hydrolases within the cytoplasm. This test targets a single gene variant associated with mucolipidosis type II.
Disease Description
Mucolipidosis type II is a disorder caused by the abnormal accumulation of mucolipids within cells. Due to improper localization of lysosomal enzymes, enzymes responsible for breaking down mucolipids are deficient, leading to abnormal storage of mucolipids inside cells. This condition typically results in multiple craniofacial abnormalities and growth delay.
