Home > A. Molecular pathology > GALNT3
GALNT3
MIM.601756
Tuesday 11 May 2004
GALNT3 encodes a protein involved in O-linked glycosylation
Pathology
mutations in familial tumoral calcinosis (MIM.211900), a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. (15133511)