| EntrezGeneSummary | Thesecretedpolypeptide,encodedbythisgene,bindsandinactivatesmembersofthetransforminggrowthfactor-beta(TGF-beta)superfamilysignalingproteins,suchasbonemorphogeneticprotein-4(BMP4).BydiffusingthroughextracellularmatricesmoreefficientlythanmembersoftheTGF-betasuperfamily,thisproteinmayhaveaprincipalroleincreatingmorphogenicgrADIents.Theproteinappearstohavepleiotropiceffect,bothearlyindevelopmentaswellasinlaterstages.ItwasoriginallyisolatedfromXenopusbasedonitsABIlitytorestorenormaldorsal-ventralbodyaxisinembryosthathadbeenartificiallyventralizedbyUVtreatment.Theresultsofthemouseknockoutoftheorthologsuggestthatitisinvolvedinnumerousdevelopmentalprocesses,suchasneuraltubefusionandjointformation.Recently,severaldominanthumanNOGmutationsinunrelatedfamilieswithproximalsymphalangism(SYM1)andmultiplesynostosessyndrome(SYNS1)wereidentified;bothSYM1andSYNS1havemultiplejointfusionastheirprincipalfeature,andmaptothesameregion(17q22)asthisgene.Allofthesemutationsalteredevolutionarilyconservedaminoacidresidues.TheaminoacidsequenceofthishumangeneishighlyhomologoustothatofXenopus,ratandmouse. |
| UniProtSummary | FUNCTION:SwissProt:Q13253#Essentialforcartilagemorphogenesisandjointformation.Inhibitorofbonemorphogeneticproteins(BMP)signalingwhichisrequiredforgrowthandpatterningoftheneuraltubeandsomite(Bysimilarity).
SIZE:232aminoacids;25774Da
SUBUNIT:Homodimer;disulfide-linked(Bysimilarity).
SUBCELLULARLOCATION:Secreted.
DISEASE:SwissProt:Q13253#DefectsinNOGarethecauseofsymphalangismproximalsyndrome(SYM1)[MIM:185800].SYM1ischaracterizedbythehereditaryabsenceoftheproximalinterphalangeal(PIP)joints(Cushingsymphalangism).SeverityofPIPjointinvolvementdiminishestowardstheradialside.Distalinterphalangealjointsarelessfrequentlyinvolvedandmetacarpophalangealjointsarerarelyaffectedwhereascarpalbonemalformationandfusionarecommon.Inthelowerextremities,tarsalbonecoalitioniscommon.Conducivehearinglossisseenandisduetofusionofthestapestothepetrouspartofthetemporalbone.&DefectsinNOGarethecauseofmultiplesynostosessyndrome1(SYNS1)[MIM:186500];alsoknownassynostoses,multiple,withbrachydactyly/symphalangism-brachydactylysyndrome.SYNS1ischaracterizedbytubular-shaped(hemicylindrical)nosewithlackofalarflare,otoscleroticdeafness,andmultipleprogressivejointfusionscommencinginthehand.Thejointfusionsareprogressive,commencinginthefifthproximalinterphalangealjointinearlychildhood(oratbirthinsomeindividuals)andprogressinginanulnar-to-radialandproximal-to-distaldirection.Withincreasingage,ankylosisofotherjoints,includingthecervicalvertebrae,hips,andhumeroradialjoints,develop.&DefectsinNOGarethecauseoftarsal-carpalcoalitionsyndrome(TCC)[MIM:186570].TCCisanautosomaldominantdisordercharacterizedbyfusionofthecarpals,tarsalsandphalanges,shortfirstmetacarpalscausingbrachydactyly,andhumeroradialfusion.TCCisallelictoSYM1,anddifferentmutationsinNOGcanresultineitherTCCorSYM1indifferentfamilies.&DefectsinNOGareacauseofstapesankylosiswithbroadthumbandtoes[MIM:184460].Stapesankylosiswithbroadthumbandtoesisacongenitalautosomaldominantdisorderthatincludeshyperopia,ahemicylindricalnose,broadthumbs,greattoes,andotherminorskeletalanomaliesbutlackedcarpalandtarsalfusionandsymphalangism.&DefectsinNOGarethecauseofbrachydactylytypeB2(BDB2)[MIM:611377].BDB2isasubtypeofbrachydactylycharacterizedbyhypoplasia/aplasiaofdistalphalangesincombinationwithdistalsymphalangism,fusionofcarpal/tarsalbones,andpartialcutaneoussyndactyly.
SIMILARITY:SwissProt:Q13253##Belongstothenogginfamily. |
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