Norrin

Last updated
NDP
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NDP , EVR2, FEVR, ND, Norrie disease (pseudoglioma), norrin cystine knot growth factor, norrin cystine knot growth factor NDP
External IDs OMIM: 300658; MGI: 102570; HomoloGene: 225; GeneCards: NDP; OMA:NDP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000266

NM_010883

RefSeq (protein)

NP_000257

NP_035013

Location (UCSC) Chr X: 43.95 – 43.97 Mb Chr X: 16.75 – 16.78 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. [5] Mutations in the NDP gene are associated with the Norrie disease.

Contents

Function

Signaling induced by the protein Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear. [5] Norrin binds with high affinity to Frizzled 4, and Frizzled 4 knockout mice exhibit abnormal vascular development of the retina.

Clinical significance

NDP is the genetic locus identified as harboring mutations that result in Norrie disease. Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness that is caused by a vascularized mass behind each lens due to a maldeveloped retina (pseudoglioma). [5]

Related Research Articles

Norrie disease is a rare X-linked recessive genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor gene, also referred to as Norrie Disease Pseudoglioma (NDP) gene. Norrie disease manifests with vision impairment either at birth, or within a few weeks of life, following an ocular event like retinal detachment and is progressive through childhood and adolescence. It generally begins with retinal degeneration, which occurs before birth and results in blindness at birth (congenital) or early infancy, usually by 3 months of age.

<span class="mw-page-title-main">ABCA12</span> Protein-coding gene in the species Homo sapiens

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

<span class="mw-page-title-main">CLCN1</span> Protein-coding gene in the species Homo sapiens

The CLCN family of voltage-dependent chloride channel genes comprises nine members which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen).

<span class="mw-page-title-main">Frizzled-4</span> Protein-coding gene in the species Homo sapiens

Frizzled-4(Fz-4) is a protein that in humans is encoded by the FZD4 gene. Fz-4 has also been designated as CD344.

<span class="mw-page-title-main">WFS1</span> Protein-coding gene in the species Homo sapiens

Wolframin is a protein that in humans is encoded by the WFS1 gene.

<span class="mw-page-title-main">EXT1</span> Protein-coding gene in the species Homo sapiens

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

<span class="mw-page-title-main">Myotubularin 1</span> Protein-coding gene in the species Homo sapiens

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

<span class="mw-page-title-main">Eyes absent homolog 1</span> Protein-coding gene in the species Homo sapiens

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.

<span class="mw-page-title-main">SGCB</span> Protein-coding gene in the species Homo sapiens

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.

<span class="mw-page-title-main">GJB3</span> Mammalian protein found in Homo sapiens

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

<span class="mw-page-title-main">MKKS</span> Protein-coding gene in the species Homo sapiens

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

<span class="mw-page-title-main">Cyclic nucleotide gated channel beta 3</span> Protein-coding gene in the species Homo sapiens

Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.

<span class="mw-page-title-main">TULP1</span> Protein-coding gene in the species Homo sapiens

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

<span class="mw-page-title-main">BBS1</span> Protein

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.

<span class="mw-page-title-main">ROM1</span> Protein-coding gene in the species Homo sapiens

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.

<span class="mw-page-title-main">Eyes absent homolog 4</span> Protein-coding gene in the species Homo sapiens

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.

<span class="mw-page-title-main">BBS2</span> Protein-coding gene in the species Homo sapiens

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.

<span class="mw-page-title-main">NHLRC1</span> Protein-coding gene in the species Homo sapiens

NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.

<span class="mw-page-title-main">MFRP</span> Protein-coding gene in the species Homo sapiens

Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.

<span class="mw-page-title-main">MKS1</span> Protein-coding gene in the species Homo sapiens

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000124479 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040138 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 "Entrez Gene: NDP Norrie disease (pseudoglioma)".

Further reading