S Wikipedije, slobodne enciklopedije
Protein DGCR6 jest protein koji je kod ljudi kodiran genom DGCR6 sa hromosoma 22 .[3] [4]
Dužina polipeptidnog lanca je 220 aminokiselina , a molekulska težina 24.989 Da .[4]
10 20 30 40 50 MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD LALALLDGTV FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH QEAQQACRPH NLPVLQAAQQ RELEAVEHRI REEQRAMDQK IVLELDRKVA DQQSTLEKAG VAGFYVTTNP QELMLQMNLL ELIRKLQQRG CWAGKAALGL GGPWQLPAAQ CDQKGSPVPP
DiGeorgeov sindrom , i šire, sindrom CATCH 22 , povezani su sa mikrodelecijama u hromosomskoj regiji 22q11.2. Ovaj genski proizvod dijeli homologiju sa proteinom gonada Drosophila melanogaster germinativnih ćelija , i sa ljudskim lamininskim gama-1 lancem, koji nakon polimerizacije sa alfa- i beta-lancima formira molekulu laminina . Laminin se vezuje za ćelije kroz interakciju sa receptorom i ima funkcije u vezivanju ćelija , migracijama i organizaciji tkiva tokom razvoja. Ovaj gen bi mogao biti kandidat za uključenost u patološke promjene DiGeorgeovog sindroma igrajući ulogu u migraciji ćelija nervnog grebena u treću i četvrtu farinksnu vrećicu , strukture iz kojih potiču organi zahvaćeni DiGeorgeovim sindromom .[4]
Edelmann L, Stankiewicz P, Spiteri E, et al. (2001). "Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus" . Genome Res . 11 (2): 208–17. doi :10.1101/gr.gr-1431r . PMC 311013 PMID 11157784 . Liu H, Heath SC, Sobin C, et al. (2002). "Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia" . Proc. Natl. Acad. Sci. U.S.A . 99 (6): 3717–22. doi :10.1073/pnas.042700699 PMC 122590 PMID 11891283 . Chakravarti A (2002). "A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility" . Proc. Natl. Acad. Sci. U.S.A . 99 (8): 4755–6. doi :10.1073/pnas.092158299 PMC 122660 PMID 11959925 . Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Mol. Vis . 8 : 196–204. PMID 12107411 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome" . Genome Biol . 5 (10): R84. doi :10.1186/gb-2004-5-10-r84 . PMC 545604 PMID 15461802 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Pfuhl T, Dürr M, Spurk A, et al. (2005). "Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes". Hum. Genet . 117 (1): 70–80. doi :10.1007/s00439-005-1267-2 . PMID 15821931 . S2CID 24817896 . 
