Biological Context
Subcellular Location: Secreted
Disease Association: Geleophysic dysplasia 1 (GPHYSD1) : An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human ADAMTS-like protein 2 (ADAMTSL2), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 861-943aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 16.5kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
