LOCUS NP_000257 133 aa linear PRI 27-MAR-2008 DEFINITION norrin [Homo sapiens]. ACCESSION NP_000257 VERSION NP_000257.1 GI:4557789 DBSOURCE REFSEQ: accession NM_000266.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 133) AUTHORS Lev,D., Weigl,Y., Hasan,M., Gak,E., Davidovich,M., Vinkler,C., Leshinsky-Silver,E., Lerman-Sagie,T. and Watemberg,N. TITLE A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms JOURNAL Am. J. Med. Genet. A 143 (9), 921-924 (2007) PUBMED 17334993 REMARK GeneRIF: A novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E in Norrie disease with neurological disorder and infantile spasms. REFERENCE 2 (residues 1 to 133) AUTHORS Kondo,H., Qin,M., Kusaka,S., Tahira,T., Hasebe,H., Hayashi,H., Uchio,E. and Hayashi,K. TITLE Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy JOURNAL Invest. Ophthalmol. Vis. Sci. 48 (3), 1276-1282 (2007) PUBMED 17325173 REMARK GeneRIF: These observations indicate that mutations of the NDP gene can cause ND(Norrie disease) and 6% of FEVR(familial exudative vitreoretinopathy) cases in the Japanese population. REFERENCE 3 (residues 1 to 133) AUTHORS Smallwood,P.M., Williams,J., Xu,Q., Leahy,D.J. and Nathans,J. TITLE Mutational analysis of Norrin-Frizzled4 recognition JOURNAL J. Biol. Chem. 282 (6), 4057-4068 (2007) PUBMED 17158104 REMARK GeneRIF: Norrin binds to the Frizzled4 cysteine-rich domain (CRD) and does not detectably bind to 14 other mammalian Frizzled and secreted Frizzled-related protein CRDs. REFERENCE 4 (residues 1 to 133) AUTHORS Wu,W.C., Drenser,K., Trese,M., Capone,A. Jr. and Dailey,W. TITLE Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene JOURNAL Arch. Ophthalmol. 125 (2), 225-230 (2007) PUBMED 17296899 REMARK GeneRIF: Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene. REFERENCE 5 (residues 1 to 133) AUTHORS Drenser,K.A., Dailey,W., Capone,A. and Trese,M.T. TITLE Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy JOURNAL Ophthalmic Genet. 27 (3), 75-78 (2006) PUBMED 17050281 REMARK GeneRIF: We found genetic testing of NDP to be helpful in confirming the diagnosis of X-linked FEVR (familial exudative vitreoretinopathy) in male patients, especially when limited family history was available. REFERENCE 6 (sites) AUTHORS Perez-Vilar,J. and Hill,R.L. TITLE Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix JOURNAL J. Biol. Chem. 272 (52), 33410-33415 (1997) PUBMED 9407136 REFERENCE 7 (residues 1 to 133) AUTHORS Berger,W., van de Pol,D., Warburg,M., Gal,A., Bleeker-Wagemakers,L., de Silva,H., Meindl,A., Meitinger,T., Cremers,F. and Ropers,H.H. TITLE Mutations in the candidate gene for Norrie disease JOURNAL Hum. Mol. Genet. 1 (7), 461-465 (1992) PUBMED 1307245 REMARK Review article REFERENCE 8 (residues 1 to 133) AUTHORS Meindl,A., Berger,W., Meitinger,T., van de Pol,D., Achatz,H., Dorner,C., Haasemann,M., Hellebrand,H., Gal,A., Cremers,F. et al. TITLE Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins JOURNAL Nat. Genet. 2 (2), 139-143 (1992) PUBMED 1303264 REFERENCE 9 (residues 1 to 133) AUTHORS Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A., Lebo,R., Warburgh,M. et al. TITLE Isolation of a candidate gene for Norrie disease by positional cloning JOURNAL Nat. Genet. 2 (1), 84 (1992) PUBMED 1303256 REMARK Correction to:[Nat Genet. 1992 Jun;1(3):199-203. PMID: 1303235] REFERENCE 10 (residues 1 to 133) AUTHORS Chen,Z.Y., Hendriks,R.W., Jobling,M.A., Powell,J.F., Breakefield,X.O., Sims,K.B. and Craig,I.W. TITLE Isolation and characterization of a candidate gene for Norrie disease JOURNAL Nat. Genet. 1 (3), 204-208 (1992) PUBMED 1303236 REFERENCE 11 (residues 1 to 133) AUTHORS Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A., Lebo,R., Warburg,M. et al. TITLE Isolation of a candidate gene for Norrie disease by positional cloning JOURNAL Nat. Genet. 1 (3), 199-203 (1992) PUBMED 1303235 REMARK Erratum:[Nat Genet. 1992 Sep;2(1):84. PMID: 1303256] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL034370.1, X65882.1 and BE139596.1. Summary: 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). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. FEATURES Location/Qualifiers source 1..133 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.4" Protein 1..133 /product="norrin" /note="exudative vitreoretinopathy 2 (X-linked)" /calculated_mol_wt=14912 variation 1 /replace="v" /db_xref="dbSNP:28933685" variation 23 /replace="e" /db_xref="dbSNP:5952410" Bond bond(39,96) /bond_type="disulfide" /experiment="experimental evidence, no additional details recorded" /note="disulfide bridge bond" /citation=[6] Region 43..129 /region_name="CT" /note="C-terminal cystine knot-like domain (CTCK); The structures of transforming growth factor-beta (TGFbeta), nerve growth factor (NGF), platelet-derived growth factor (PDGF) and gonadotropin all form 2 highly twisted antiparallel pairs of beta-strands and con; smart00041" /db_xref="CDD:47390" Bond bond(55,110) /bond_type="disulfide" /experiment="experimental evidence, no additional details recorded" /note="disulfide bridge bond" /citation=[6] variation 64 /replace="m" /db_xref="dbSNP:3177012" Bond bond(65,126) /bond_type="disulfide" /experiment="experimental evidence, no additional details recorded" /note="disulfide bridge bond" /citation=[6] Bond bond(69,128) /bond_type="disulfide" /experiment="experimental evidence, no additional details recorded" /note="disulfide bridge bond" /citation=[6] variation 124 /replace="f" /db_xref="dbSNP:28933684" CDS 1..133 /gene="NDP" /coded_by="NM_000266.2:503..904" /db_xref="CCDS:CCDS14262.1" /db_xref="GeneID:4693" /db_xref="HGNC:7678" /db_xref="HPRD:HPRD_02404" /db_xref="MIM:300658" ORIGIN 1 mrkhvlaasf smlsllvimg dtdsktdssf imdsdprrcm rhhyvdsish plykcsskmv 61 llarceghcs qasrseplvs fstvlkqpfr sschccrpqt sklkalrlrc sggmrltaty 121 ryilschcee cns //