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DGCR6

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DGCR6
Identifiers
AliasesDGCR6, DiGeorge syndrome critical region gene 6
External IDsOMIM: 601279; HomoloGene: 136000; GeneCards: DGCR6; OMA:DGCR6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005675

n/a

RefSeq (protein)

NP_001355171

n/a

Location (UCSC)Chr 22: 18.91 – 18.91 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.[3][4]

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.[4]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183628Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Demczuk S, Thomas G, Aurias A (Jun 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. doi:10.1093/hmg/5.5.633. PMID 8733130.
  4. ^ a b "Entrez Gene: DGCR6 DiGeorge syndrome critical region gene 6".

Further reading

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