Neurobeahinoliki protein 2 jest protein koji je kod ljudi kodiran genom NBEAL2 sa hromosoma 3.
Aminokiselinska sekvenca Dužina polipeptidnog lanca je 2 754 aminokiseline, а molekulska težina 302.517 Da..
1020304050 MAASERLYELWLLYYAQKDLGYLQQWLKAFVGAFKKSISLSSLEPRRPEE AGAEVPLLPLDELHVLAEQLHQADLEQALLLLKLFIILCRNLENIEAGRG QVLVPRVLALLTKLVAELKGCPPPQGRGTQLENVALHALLLCEGLFDPYQ TWRRQRSGEVISSKEKSKYKFPPAALPQEFSAFFQESLQNADHLPPILLL RLIHLFCAVLAGGKENGQMAVSDGSVKGLLSVVRGWSRGPAPDPCLVPLA LEALVGAVHVLHASRAPPRGPELRALLESYFHVLNADWPAGLSSGPEEAL VTLRVSMLDAIPMMLACEDRPVLQATFLSNNCFEHLTRLIQNSKLYLQSR APPEGDSDLATRLLTEPDVQKVLDQDTDAIAVHVVRVLTCIMSDSPSAKE VFKERIGYPHLQEVLQSHGPPTHRLLQELLNMAVEGDHSMCPPPPIRNEQ PVLVLAQWLPSLPTAELRLFLAQRLRWLCDSCPASRATCVQAGLVGCLLE TLSTGLALEARCQEQLLALLQALGRVSIRPMELRHLLRPRPGLDSEPGGA EAGKARHAGAVIRTLSGMARHQGPARALRYFDLTPSMAGIMVPPVQRWPG PGFTFHAWLCLHPMDTAPTPAPTRPLQRKQLYSFFTSSGSGFEAFFTAAG TLVVAVCTRKEYLTMSLPEVSFADSAWHCVAIVHVPGRRPFSQNLVHVYK DGHLVKTAPLRCPSLSEPFSSCCIGSAGYRTTTTTTGLPTPPVPATLAYT HPALTRSQSVPASTGLGWGSGLVAPLQEGSIDSTLAGTQDTRWGSPTSLE GELGAVAIFHEALQATALRTLCTLGPNETAPFKPEGELHELSTRLLLHYS PQACKNNICLDLSPSHGLDGRLTGHRVETWDVKDVVNCVGGMGALLPLLE RVAAQPKEAEAGPAETHDLVGPELTSGHNTQGLVLPLGKSSEERMERNAV AAFLLMLRNFLQGHMVNQESLVQCQGPAIIGALLRKVPSWAMDMNVLMSA QLLMEQVAAEGSGPLLYLLYQHLLFNFHLWTLSDFAVRLGHIQYMSSIVR EHRQKLRKKYGVQFILDALRTHYSPQRERPLAADDLRTVQTSLLGLAREF LVRSLSADDVQVTQTMLSFLAATGDDGQAVGALDLLLALLHGSLVQESLA VFLLEPGNLEVLLALLVRPGSLPLLPDRVCKILRRLQQNERLPERSRQRL RLRECGLQGLVACLPEGTVSPQLCQGLYKLFLGADCLNLSDLLAVVQLSL QADLSVRLDICRQLFHLIYGQPDVVRLLARQAGWQDVLTRLYVLEAATAG SPPPSSPESPTSPKPAPPKPPTESPAEPSDVFLPSEAPCPDPDGFYHALS PFCTPFDLGLERSSVGSGNTAGGGGSSGTLTPASQPGTPSPLDGPRPFPA APGRHSSSLSNVLEDGSLPEPTISGDDTSNTSNPQQTSEEELCNLLTNVL FSVTWRGVEGSDEAAWRERGQVFSVLTQLGASATLVRPPDCIKRSLLEMM LESALTDIKEAPVGVLASLTQQALWLLRLLQDFLCAEGHGNQELWSEKLF EGVCSLLDRLGAWPHLANGTADLREMAQIGLRLVLGYILLEDPQLHAQAY VRLHMLLQTAVPARREEACYVLSKLEAALGRVLNTSSLESATDEAGSPLA AAAAAAAAERCSWLVPLVRTLLDRAYEPLGLQWGLPSLPPTNGSPTFFED FQAFCATPEWRHFIDKQVQPTMSQFEMDTYAKSHDLMSGFWNACYDMLMS SGQRRQWERAQSRRAFQELVLEPAQRRARLEGLRYTAVLKQQATQHSMAL LHWGALWRQLASPCGAWALRDTPIPRWKLSSAETYSRMRLKLVPNHHFDP HLEASALRDNLGEVPLTPTEEASLPLAVTKEAKVSTPPELLQEDQLGEDE LAELETPMEAAELDEQREKLVLSAECQLVTVVAVVPGLLEVTTQNVYFYD GSTERVETEEGIGYDFRRPLAQLREVHLRRFNLRRSALELFFIDQANYFL NFPCKVGTTPVSSPSQTPRPQPGPIPPHTQVRNQVYSWLLRLRPPSQGYL SSRSPQEMLRASGLTQKWVQREISNFEYLMQLNTIAGRTYNDLSQYPVFP WVLQDYVSPTLDLSNPAVFRDLSKPIGVVNPKHAQLVREKYESFEDPAGT IDKFHYGTHYSNAAGVMHYLIRVEPFTSLHVQLQSGRFDCSDRQFHSVAA AWQARLESPADVKELIPEFFYFPDFLENQNGFDLGCLQLTNEKVGDVVLP PWASSPEDFIQQHRQALESEYVSAHLHEWIDLIFGYKQRGPAAEEALNVF YYCTYEGAVDLDHVTDERERKALEGIISNFGQTPCQLLKEPHPTRLSAEE AAHRLARLDTNSPSIFQHLDELKAFFAEVVSDGVPLVLALVPHRQPHSFI TQGSPDLLVTVSASGLLGTHSWLPYDRNISNYFSFSKDPTMGSHKTQRLL SGPWVPGSGVSGQALAVAPDGKLLFSGGHWDGSLRVTALPRGKLLSQLSC HLDVVTCLALDTCGIYLISGSRDTTCMVWRLLHQGGLSVGLAPKPVQVLY GHGAAVSCVAISTELDMAVSGSEDGTVIIHTVRRGQFVAALRPLGATFPG PIFHLALGSEGQIVVQSSAWERPGAQVTYSLHLYSVNGKLRASLPLAEQP TALTVTEDFVLLGTAQCALHILQLNTLLPAAPPLPMKVAIRSVAVTKERS HVLVGLEDGKLIVVVAGQPSEVRSSQFARKLWRSSRRISQVSSGETEYNP TEAR
Funkcija Protein kodiran ovim genom sadrži bež i Chediak-Higashijev (BEACH) domen i više WD40 domena, a može imati ulogu u biogenezi megakariocita alfa-granula.
Klinički značaj Pokazalo se da mutacija ovog gena uzrokuje sindrom sivih trombocita.
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Further reading
Kategorija:Geni na hromosomu 3 Kategorija:Ljudski proteini Kategorija:Proteomika