The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

  • Protein glycosylation
  • Protein O-linked glycosylation
  • Nervous system development
  • Muscle organ development
  • Negative regulation of cell proliferation
  • Muscular dystrophy-dystroglycanopathy , type a, 4
  • Muscular dystrophy-dystroglycanopathy , type c, 4
  • Cardiomyopathy, dilated, 1x
  • Muscular dystrophy-dystroglycanopathy , type b, 4
  • Walker-warburg syndrome

Gene Location