Olfactomedin Like Protein 2B (OLFML2B)

The OLFML2B gene is a gene located on chromosome 1 in the human genome flanked by the ATF6 and NOS1AP gene. It consists of a total of 40663 bp, which are partitioned into 8 exons and 7 introns. Presently the knowledge about the function of OLFML2B, myocilin (MYOC) and other OLF-domain proteins is very limited. It has been shown that OLFML2B, as well as myocilin (MYOC) and other OLF-domain proteins are glycoproteins targeted for the extracellular space and getting secreted into the medium. They bind to unknown receptors presumably through the beta-sheet protein domain at their C-terminus but potentially also through other domains of the protein. In the case of MYOC, mutations lead to autosomal dominant primary open angle glaucoma (POAG) and explain about 5% of all glaucoma cases.