DGCR6

From Wikipedia, the free encyclopedia
Jump to: navigation, search
DiGeorge syndrome critical region gene 6
Identifiers
Symbol DGCR6
External IDs OMIM601279 HomoloGene4152 GeneCards: DGCR6 Gene
RNA expression pattern
PBB GE DGCR6 208024 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8214 13353
Ensembl ENSG00000183628 ENSMUSG00000003531
UniProt Q14129 O35347
RefSeq (mRNA) NM_005675 NM_010047
RefSeq (protein) NP_005666 NP_034177
Location (UCSC) Chr 22:
18.89 – 18.9 Mb
Chr 16:
18.05 – 18.07 Mb
PubMed search [1] [2]

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.[1][2]

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.[2]

References[edit]

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

Further reading[edit]