Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies. Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region. The function of the SEDL protein is not known although it is speculated that it may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex.
Savarirayan
Ravi
R
Genetic Health Services Victoria, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Victoria, Australia.
Thompson
Elizabeth
E
Gécz
Jozef
J
D002352:Carrier Proteins / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors