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
//