Reagents, Molecular Assay, Gene Anomaly, Mutation, COL11A2
Definition : Molecular assay reagents intended to identify mutations in the collagen, type XI, alpha 2 (COL11A2) gene, located at chromosome 6p21.3, which encodes for the pro-alpha 2 polypeptide chain of collagen XI that adds structure and strength to the connective tissues that support the body's muscles, organs, and skin. Mutations at this locus have been identified in patients with Stickler syndrome type III, autosomal dominant nonsyndromic deafness, otospondylomegaepiphyseal dysplasia (OSMED), and Weissenbacher-Zweymulller syndrome.
Entry Terms : "Oto-Spondylometa-Epiphyseal Dysplasia (OSMED) Gene Mutation Detection Reagents" , "Stickler Syndrome Type III Gene Mutation Detection Reagents"
UMDC code : 24355