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). |
(summation) |
© 2024 Reactome