This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

  • Protein glycosylation
  • Glycoprotein biosynthetic process
  • Protein processing
  • Protein O-linked mannosylation
  • Muscular dystrophy-dystroglycanopathy , type c, 5
  • Muscular dystrophy-dystroglycanopathy , type b, 5
  • Muscular dystrophy-dystroglycanopathy , type a, 5
  • Congenital muscular dystrophy-dystroglycanopathy type a5
  • Walker-warburg syndrome
  • General Cardiomyopathy
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

Pathogenic Prevalence

% 0.153217568947906

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.255362614913177

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

A=0.001203(151/125568,TOPMED)
A=0.001028(125/121630,GnomAD_exome)
A=0.00086(11/12846,ALFAProject)
A=0.0006(3/5008,1000G)
A=0.0020(9/4480,Estonian)
A=0.0040(13/3282,ExAC)
A=0.003(2/600,NorthernSweden)

High/Med VUS Variants

A=0.001203(151/125568,TOPMED)
A=0.001028(125/121630,GnomAD_exome)
A=0.00086(11/12846,ALFAProject)
A=0.0006(3/5008,1000G)
A=0.0020(9/4480,Estonian)
A=0.0040(13/3282,ExAC)
A=0.003(2/600,NorthernSweden)