retinoschisin; X-linked juvenile retinoschisis protein (RS1 XLRS1)

Function

• may be active in cell adhesion processes during retinal development

Structure

• homooctamer of 4 homodimers; disulfide-linked
• contains 1 F5/8 type C domain

Compartment

secreted

Expression

expressed specifically in retina

Pathology

• mutations associated with X-linked juvenile retinoschisis 1

More general terms

• secreted protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6247
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6247
• OMIM: https://mirror.omim.org/entry/312700
• UniProt: http://www.uniprot.org/uniprot/O15537.html