ARX angl Aristaless related homeobox bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na X hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 562 aminokislot a molekulyarna masa 58 160 5 ARXIdentifikatoriSimvoliARX CT121 EIEE1 ISSX MRX29 MRX32 MRX33 MRX36 MRX38 MRX43 MRX54 MRX76 MRX87 MRXS1 PRTS aristaless related homeoboxZovnishni ID OMIM 300382 MGI 1097716 HomoloGene 68998 GeneCards ARXPov yazani genetichni zahvoryuvannyacorpus callosum agenesis abnormal genitalia syndrome X linked lissencephaly with abnormal genitalia intellectual disability X linked with or without seizures Arx related infantile epileptic dyskinetic encephalopathy X linked spasticity intellectual disability epilepsy syndrome non syndromic X linked intellectual disability 1 Ontologiya genaMolekulyarna funkciya GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding DNA binding sequence specific DNA binding chromatin binding GO 0001078 GO 0001214 GO 0001206 DNA binding transcription repressor activity RNA polymerase II specific GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specific RNA polymerase II transcription regulatory region sequence specific DNA bindingKlitinna komponenta klitinne yadroBiologichnij proces Diferenciaciya klitin GO 0009373 regulation of transcription DNA templated cerebral cortex tangential migration lipid digestion positive regulation of organ growth neuron migration GO 1901227 negative regulation of transcription by RNA polymerase II globus pallidus development transcription DNA templated nejrobiologiya rozvitku axon guidance multicellular organism development GO 1901313 positive regulation of gene expression regulation of cell population proliferation epithelial cell fate commitment embryonic olfactory bulb interneuron precursor migration cerebral cortex GABAergic interneuron migration forebrain development olfactory bulb development cell proliferation in forebrain neuron developmentDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez170302 11878Ensembl ENSG00000004848 ENSMUSG00000035277UniProt Q96QS3 O35085RefSeq mRNK NM 139058NM 007492NM 001305940RefSeq bilok NP 620689NP 001292869NP 031518Lokus UCSC Hr X 25 25 02 MbHr X 92 33 92 34 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVCA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do bilkiv rozvitku Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi diferenciaciya klitin nejrogenez Bilok maye sajt dlya zv yazuvannya z DNK Lokalizovanij u yadri Literatura red Turner G Partington M Kerr B Mangelsdorf M Gecz J 2002 Variable expression of mental retardation autism seizures and dystonic hand movements in two families with an identical ARX gene mutation Am J Med Genet 112 405 411 PubMed DOI 10 1002 ajmg 10714Primitki red Zahvoryuvannya genetichno pov yazani z ARX pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 18060 angl Arhiv originalu za 28 travnya 2017 Procitovano 12 veresnya 2017 UniProt Q96QS3 angl Arhiv originalu za 14 veresnya 2017 Procitovano 12 veresnya 2017 Div takozh red Hromosoma X nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title ARX amp oldid 35338365
