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

//