Family

Norrie disease protein (IPR003064)

Short name: Norrie_dis

Family relationships

None.

Description

Norrie disease is a severe, X-linked, recessive neurodevelopmental disorder characterised by progressive atrophy of the eyes, deafness and mental retardation [PMID: 1303236]. The Norrie disease gene is expressed in retina, choroid and foetal brain [PMID: 1303235]. 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 peripheral retina. It has been shown that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene [PMID: 8298646].

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 an emerging family of growth factors containing a cystine knot motif [PMID: 8298646]. 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.

GO terms

Biological Process

GO:0016055 Wnt signaling pathway

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005615 extracellular space

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
PRINTS