DGCR6

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DiGeorge syndrome critical region gene 6
Identifiers
Symbol(s) DGCR6;
External IDs OMIM: 601279 HomoloGene: 88727
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 8214 n/a
Ensembl ENSG00000183628 n/a
Uniprot Q14129 n/a
Refseq NM_005675 (mRNA)
NP_005666 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr 22: 17.27 - 17.28 Mb n/a
Pubmed search [1] n/a

DiGeorge syndrome critical region gene 6, also known as DGCR6, is a human gene.[1]

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.[1]

[edit] References

  1. ^ a b Entrez Gene: DGCR6 DiGeorge syndrome critical region gene 6.

[edit] Further reading

  • Demczuk S, Thomas G, Aurias A (1997). "Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.". Hum. Mol. Genet. 5 (5): 633-8. PMID 8733130. 
  • 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.143101. 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. 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. 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. 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. 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. 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. 
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