Protein Domain : Norrie disease protein IPR003064

Type	Family
Description	Norrie disease is a severe, X-linked, recessive neurodevelopmental disorder characterised by progressive atrophy of the eyes, deafness and mental retardation [ ]. The Norrie disease gene is expressed in retina, choroidand foetal brain [ ]. X-linked Familial Exudative Vitreoretinopathy (XLFEVR)is a hereditary eye disorder that affects both the retina and the vitreous body and is characterised by abnormal vascularisation of the peripheralretina. It has been shown that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene [].Norrie disease protein (NDP) is thought to have a tertiary structure similar to that of transforming growth factor beta (TGF beta). Molecular modelling studies have suggested that NDP is a member of anemerging family of growth factors containing a cystine knot motif [ ].NDP is thought to be involved in a pathway that regulates neural cell differentiation and proliferation, and may have a role in neuroectodermal cell-cell interaction.
Short Name	Norrie_dis