迟发性脊椎骨骺发育不良（SEDL，MIM编号#313400）。
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
作者信息
Savarirayan Ravi, Thompson Elizabeth, Gécz Jozef
机构信息
Genetic Health Services Victoria, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Victoria, Australia.
出版信息
Eur J Hum Genet. 2003 Sep;11(9):639-42. doi: 10.1038/sj.ejhg.5201025.
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.
迟发性脊椎骨骺发育不良（SEDL）是一种在放射学上有明显特征的、X染色体连锁的原发性骨骼发育不良，其特点是不成比例的短躯干矮小身材、大关节（髋关节）发育异常以及胸椎和腰椎椎体扁平。通过鉴定来自Xp22区域的SEDL基因中的各种突变（目前已超过30种），已阐明了SEDL的分子基础。尽管推测SEDL蛋白可能作为一种新型高度保守的多蛋白TRAPP复合体的一部分参与内质网到高尔基体的转运，但其功能尚不清楚。
Zotero 插件