crumbs homolog 2 (CRB2)

Function

• polarized cells morphogenesis

Compartment

• isoform 1: cell membrane
• isoform 2: secreted

Alternative splicing

named isoforms=3

Expression

• expressed in retina, fetal eye, brain, kidney, choroid cell lines > lung, placenta, heart

Pathology

• defects in CRB2 may be a cause of retinitis pigmentosa
• defects in CRB2 may be a cause of Leber congenital amaurosis

More general terms

• membrane protein
• secreted protein
• glycoprotein

Additional terms

• Leber congenital amaurosis
• retinitis pigmentosa (RP)

Database

• OMIM: https://mirror.omim.org/entry/204000
• OMIM: https://mirror.omim.org/entry/268000
• UniProt: http://www.uniprot.org/uniprot/Q5IJ48.html