Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransf...

created [InstanceEdit:3621807] Jassal, B, 2013-05-24
dbId 3621709
displayName Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransf...
modified [InstanceEdit:4006087] Jassal, B, 2013-07-26
schemaClass Summation
text Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferases1, 2 and 3 (B3GAT1-3) are involved in forming the linker tetrasaccharide present in heparan sulfate and chondroitin sulfate. Defects in B3GAT3 cause multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD; MIM:245600). This is an autosomal recessive disease characterized by dysmorphic facies, elbow, hip and knee dislocations, clubfeet, short stature and cardiovascular defects (Steel & Kohl 1972, Bonaventure et al. 1992, Baasanjav et al. 2011). JDSSDHD has phenotypic similarities to Larsen syndrome (Larsen et al. 1950).
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