No human disease has yet been linked to dystroglycan mutations. No human disease has yet been linked to dystroglycan mutations. The dystroglycan gene Ibraghimov-Beskrovnaya et al. The chromosomal localization, determined by using somatic cell hybrids and FISH, was 3p21.1-21.31. This region is syntenic with mouse chromosome 9.
Expression is most abundant in muscle and heart.
The first 27 amino acids of the precursor are predominantly hydrophobic and probably represent a signal peptide. No human disease has yet been linked to dystroglycan mutations.