crumbs homolog 1 (CRB1)

Function

• photoreceptor morphogenesis in retina
• cell polarization & adhesion
• forms a complexes with
  • MPDZ
  • MPP4 & MPP5 apical membrane of all retinal epithelial cells adherens junction in outer limiting membrane retina isoform 1: apical cell membrane isoform 2: secreted

Alternative splicing

named isoforms=4 Preferential expression in retina Also expressed in brain, testis, fetal brain, fetal eye. Extensively glycosylated

Pathology

• defects in CRB1 are the cause of retinitis pigmentosa 12
• defects in CRB1 are a cause of Leber congenital amaurosis
• defects in CRB1 are the cause of pigmented paravenous chorioretinal atrophy

More general terms

• membrane protein
• glycoprotein
• secreted protein

Additional terms

• Leber congenital amaurosis
• pigmented paravenous chorioretinal atrophy (PPCRA)
• retinitis pigmentosa type 12 (RP12)

Database

• OMIM: https://mirror.omim.org/entry/172870
• OMIM: https://mirror.omim.org/entry/204000
• OMIM: https://mirror.omim.org/entry/268000
• OMIM: https://mirror.omim.org/entry/600105
• OMIM: https://mirror.omim.org/entry/604210
• UniProt: http://www.uniprot.org/uniprot/P82279.html